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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The Clinical Outcome Study for dysferlinopathy</title><author><name sortKey="Harris, Elizabeth" sort="Harris, Elizabeth" uniqKey="Harris E" first="Elizabeth" last="Harris">Elizabeth Harris</name></author><author><name sortKey="Bladen, Catherine L" sort="Bladen, Catherine L" uniqKey="Bladen C" first="Catherine L." last="Bladen">Catherine L. Bladen</name></author><author><name sortKey="Mayhew, Anna" sort="Mayhew, Anna" uniqKey="Mayhew A" first="Anna" last="Mayhew">Anna Mayhew</name></author><author><name sortKey="James, Meredith" sort="James, Meredith" uniqKey="James M" first="Meredith" last="James">Meredith James</name></author><author><name sortKey="Bettinson, Karen" sort="Bettinson, Karen" uniqKey="Bettinson K" first="Karen" last="Bettinson">Karen Bettinson</name></author><author><name sortKey="Moore, Ursula" sort="Moore, Ursula" uniqKey="Moore U" first="Ursula" last="Moore">Ursula Moore</name></author><author><name sortKey="Smith, Fiona E" sort="Smith, Fiona E" uniqKey="Smith F" first="Fiona E." last="Smith">Fiona E. Smith</name></author><author><name sortKey="Rufibach, Laura" sort="Rufibach, Laura" uniqKey="Rufibach L" first="Laura" last="Rufibach">Laura Rufibach</name></author><author><name sortKey="Cnaan, Avital" sort="Cnaan, Avital" uniqKey="Cnaan A" first="Avital" last="Cnaan">Avital Cnaan</name></author><author><name sortKey="Bharucha Goebel, Diana X" sort="Bharucha Goebel, Diana X" uniqKey="Bharucha Goebel D" first="Diana X." last="Bharucha-Goebel">Diana X. Bharucha-Goebel</name></author><author><name sortKey="Blamire, Andrew M" sort="Blamire, Andrew M" uniqKey="Blamire A" first="Andrew M." last="Blamire">Andrew M. Blamire</name></author><author><name sortKey="Bravver, Elena" sort="Bravver, Elena" uniqKey="Bravver E" first="Elena" last="Bravver">Elena Bravver</name></author><author><name sortKey="Carlier, Pierre G" sort="Carlier, Pierre G" uniqKey="Carlier P" first="Pierre G." last="Carlier">Pierre G. Carlier</name></author><author><name sortKey="Day, John W" sort="Day, John W" uniqKey="Day J" first="John W." last="Day">John W. Day</name></author><author><name sortKey="Diaz Manera, Jordi" sort="Diaz Manera, Jordi" uniqKey="Diaz Manera J" first="Jordi" last="Díaz-Manera">Jordi Díaz-Manera</name></author><author><name sortKey="Eagle, Michelle" sort="Eagle, Michelle" uniqKey="Eagle M" first="Michelle" last="Eagle">Michelle Eagle</name></author><author><name sortKey="Grieben, Ulrike" sort="Grieben, Ulrike" uniqKey="Grieben U" first="Ulrike" last="Grieben">Ulrike Grieben</name></author><author><name sortKey="Harms, Matthew" sort="Harms, Matthew" uniqKey="Harms M" first="Matthew" last="Harms">Matthew Harms</name></author><author><name sortKey="Jones, Kristi J" sort="Jones, Kristi J" uniqKey="Jones K" first="Kristi J." last="Jones">Kristi J. Jones</name></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name></author><author><name sortKey="Mendell, Jerry R" sort="Mendell, Jerry R" uniqKey="Mendell J" first="Jerry R." last="Mendell">Jerry R. Mendell</name></author><author><name sortKey="Mori Yoshimura, Madoka" sort="Mori Yoshimura, Madoka" uniqKey="Mori Yoshimura M" first="Madoka" last="Mori-Yoshimura">Madoka Mori-Yoshimura</name></author><author><name sortKey="Paradas, Carmen" sort="Paradas, Carmen" uniqKey="Paradas C" first="Carmen" last="Paradas">Carmen Paradas</name></author><author><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name></author><author><name sortKey="Pestronk, Alan" sort="Pestronk, Alan" uniqKey="Pestronk A" first="Alan" last="Pestronk">Alan Pestronk</name></author><author><name sortKey="Salort Campana, Emmanuelle" sort="Salort Campana, Emmanuelle" uniqKey="Salort Campana E" first="Emmanuelle" last="Salort-Campana">Emmanuelle Salort-Campana</name></author><author><name sortKey="Schreiber Katz, Olivia" sort="Schreiber Katz, Olivia" uniqKey="Schreiber Katz O" first="Olivia" last="Schreiber-Katz">Olivia Schreiber-Katz</name></author><author><name sortKey="Semplicini, Claudio" sort="Semplicini, Claudio" uniqKey="Semplicini C" first="Claudio" last="Semplicini">Claudio Semplicini</name></author><author><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name></author><author><name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name></author><author><name sortKey="Takeda, Shin Ich" sort="Takeda, Shin Ich" uniqKey="Takeda S" first="Shin'Ich" last="Takeda">Shin'Ich Takeda</name></author><author><name sortKey="Rocha, Carolina Tesi" sort="Rocha, Carolina Tesi" uniqKey="Rocha C" first="Carolina Tesi" last="Rocha">Carolina Tesi Rocha</name></author><author><name sortKey="Walter, M C" sort="Walter, M C" uniqKey="Walter M" first="M. C." last="Walter">M. C. Walter</name></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27602406</idno><idno type="pmc">4994875</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994875</idno><idno type="RBID">PMC:4994875</idno><idno type="doi">10.1212/NXG.0000000000000089</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002795</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002795</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Clinical Outcome Study for dysferlinopathy</title><author><name sortKey="Harris, Elizabeth" sort="Harris, Elizabeth" uniqKey="Harris E" first="Elizabeth" last="Harris">Elizabeth Harris</name></author><author><name sortKey="Bladen, Catherine L" sort="Bladen, Catherine L" uniqKey="Bladen C" first="Catherine L." last="Bladen">Catherine L. Bladen</name></author><author><name sortKey="Mayhew, Anna" sort="Mayhew, Anna" uniqKey="Mayhew A" first="Anna" last="Mayhew">Anna Mayhew</name></author><author><name sortKey="James, Meredith" sort="James, Meredith" uniqKey="James M" first="Meredith" last="James">Meredith James</name></author><author><name sortKey="Bettinson, Karen" sort="Bettinson, Karen" uniqKey="Bettinson K" first="Karen" last="Bettinson">Karen Bettinson</name></author><author><name sortKey="Moore, Ursula" sort="Moore, Ursula" uniqKey="Moore U" first="Ursula" last="Moore">Ursula Moore</name></author><author><name sortKey="Smith, Fiona E" sort="Smith, Fiona E" uniqKey="Smith F" first="Fiona E." last="Smith">Fiona E. Smith</name></author><author><name sortKey="Rufibach, Laura" sort="Rufibach, Laura" uniqKey="Rufibach L" first="Laura" last="Rufibach">Laura Rufibach</name></author><author><name sortKey="Cnaan, Avital" sort="Cnaan, Avital" uniqKey="Cnaan A" first="Avital" last="Cnaan">Avital Cnaan</name></author><author><name sortKey="Bharucha Goebel, Diana X" sort="Bharucha Goebel, Diana X" uniqKey="Bharucha Goebel D" first="Diana X." last="Bharucha-Goebel">Diana X. Bharucha-Goebel</name></author><author><name sortKey="Blamire, Andrew M" sort="Blamire, Andrew M" uniqKey="Blamire A" first="Andrew M." last="Blamire">Andrew M. Blamire</name></author><author><name sortKey="Bravver, Elena" sort="Bravver, Elena" uniqKey="Bravver E" first="Elena" last="Bravver">Elena Bravver</name></author><author><name sortKey="Carlier, Pierre G" sort="Carlier, Pierre G" uniqKey="Carlier P" first="Pierre G." last="Carlier">Pierre G. Carlier</name></author><author><name sortKey="Day, John W" sort="Day, John W" uniqKey="Day J" first="John W." last="Day">John W. Day</name></author><author><name sortKey="Diaz Manera, Jordi" sort="Diaz Manera, Jordi" uniqKey="Diaz Manera J" first="Jordi" last="Díaz-Manera">Jordi Díaz-Manera</name></author><author><name sortKey="Eagle, Michelle" sort="Eagle, Michelle" uniqKey="Eagle M" first="Michelle" last="Eagle">Michelle Eagle</name></author><author><name sortKey="Grieben, Ulrike" sort="Grieben, Ulrike" uniqKey="Grieben U" first="Ulrike" last="Grieben">Ulrike Grieben</name></author><author><name sortKey="Harms, Matthew" sort="Harms, Matthew" uniqKey="Harms M" first="Matthew" last="Harms">Matthew Harms</name></author><author><name sortKey="Jones, Kristi J" sort="Jones, Kristi J" uniqKey="Jones K" first="Kristi J." last="Jones">Kristi J. Jones</name></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name></author><author><name sortKey="Mendell, Jerry R" sort="Mendell, Jerry R" uniqKey="Mendell J" first="Jerry R." last="Mendell">Jerry R. Mendell</name></author><author><name sortKey="Mori Yoshimura, Madoka" sort="Mori Yoshimura, Madoka" uniqKey="Mori Yoshimura M" first="Madoka" last="Mori-Yoshimura">Madoka Mori-Yoshimura</name></author><author><name sortKey="Paradas, Carmen" sort="Paradas, Carmen" uniqKey="Paradas C" first="Carmen" last="Paradas">Carmen Paradas</name></author><author><name sortKey="Pegoraro, Elena" sort="Pegoraro, Elena" uniqKey="Pegoraro E" first="Elena" last="Pegoraro">Elena Pegoraro</name></author><author><name sortKey="Pestronk, Alan" sort="Pestronk, Alan" uniqKey="Pestronk A" first="Alan" last="Pestronk">Alan Pestronk</name></author><author><name sortKey="Salort Campana, Emmanuelle" sort="Salort Campana, Emmanuelle" uniqKey="Salort Campana E" first="Emmanuelle" last="Salort-Campana">Emmanuelle Salort-Campana</name></author><author><name sortKey="Schreiber Katz, Olivia" sort="Schreiber Katz, Olivia" uniqKey="Schreiber Katz O" first="Olivia" last="Schreiber-Katz">Olivia Schreiber-Katz</name></author><author><name sortKey="Semplicini, Claudio" sort="Semplicini, Claudio" uniqKey="Semplicini C" first="Claudio" last="Semplicini">Claudio Semplicini</name></author><author><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name></author><author><name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name></author><author><name sortKey="Takeda, Shin Ich" sort="Takeda, Shin Ich" uniqKey="Takeda S" first="Shin'Ich" last="Takeda">Shin'Ich Takeda</name></author><author><name sortKey="Rocha, Carolina Tesi" sort="Rocha, Carolina Tesi" uniqKey="Rocha C" first="Carolina Tesi" last="Rocha">Carolina Tesi Rocha</name></author><author><name sortKey="Walter, M C" sort="Walter, M C" uniqKey="Walter M" first="M. C." last="Walter">M. C. Walter</name></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name></author></analytic><series><title level="j">Neurology: Genetics</title><idno type="eISSN">2376-7839</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.</p></sec><sec><title>Methods:</title><p>The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.</p></sec><sec><title>Results:</title><p>There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies.</p></sec><sec><title>Conclusions:</title><p>These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Bushby, K" uniqKey="Bushby K">K Bushby</name></author><author><name sortKey="Straub, V" uniqKey="Straub V">V Straub</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nguyen, K" uniqKey="Nguyen K">K Nguyen</name></author><author><name sortKey="Bassez, G" uniqKey="Bassez G">G Bassez</name></author><author><name sortKey="Bernard, R" uniqKey="Bernard R">R Bernard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Miyoshi, K" uniqKey="Miyoshi K">K Miyoshi</name></author><author><name sortKey="Kawai, H" uniqKey="Kawai H">H Kawai</name></author><author><name sortKey="Iwasa, M" uniqKey="Iwasa M">M Iwasa</name></author><author><name sortKey="Kusaka, K" 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Qadri</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Braat, E" uniqKey="Braat E">E Braat</name></author><author><name sortKey="Hoste, L" uniqKey="Hoste L">L Hoste</name></author><author><name sortKey="De Waele, L" uniqKey="De Waele L">L De Waele</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Neurol Genet</journal-id><journal-id journal-id-type="iso-abbrev">Neurol Genet</journal-id><journal-id journal-id-type="hwp">nng</journal-id><journal-id journal-id-type="publisher-id">NNG</journal-id><journal-title-group><journal-title>Neurology: Genetics</journal-title></journal-title-group><issn pub-type="epub">2376-7839</issn><publisher><publisher-name>Wolters Kluwer</publisher-name><publisher-loc>Baltimore</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27602406</article-id><article-id pub-id-type="pmc">4994875</article-id><article-id pub-id-type="publisher-id">NG2016002162</article-id><article-id pub-id-type="doi">10.1212/NXG.0000000000000089</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>58</subject><subject>95</subject><subject>176</subject></subj-group><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The Clinical Outcome Study for dysferlinopathy</article-title><subtitle>An international multicenter study</subtitle></title-group><contrib-group><contrib contrib-type="author"><name><surname>Harris</surname><given-names>Elizabeth</given-names></name><degrees>MBBS</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bladen</surname><given-names>Catherine L.</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Mayhew</surname><given-names>Anna</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Biomarin Advisory Board - one off meeting</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1. BioMarin 2. Pfizer Inca 3. Sarepta Therapeutics 4. PTC Therapeutics 5. Summit Therapeutics plc 6. Eli Lilly 7. Amicus</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical procedures or imaging studies:</title><list-item><p>1. John Walton MD Centre, Clinical Evaluator for Dysferlinopathy Outcome Study, 5%</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>James</surname><given-names>Meredith</given-names></name><degrees>PT</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1. BioMarin 2. Pfizer Inc 3. Sarepta Therapeutics 4. PTC Therapeutics 5. Summit Therapeutics plc 6. Eli Lilly 7. FibroGen 8. Amicus Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bettinson</surname><given-names>Karen</given-names></name><degrees>MSc</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Ursula</given-names></name><degrees>MBBChir</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Fiona E.</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Rufibach</surname><given-names>Laura</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1. Neuromuscular Disease Foundation (NDF)</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>(1) Neuromuscular Disease Foundation - payment for travel to the HIBM patient and board meeting</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Jain Foundation - I am a direct employee (VP of Clinical Strategies) of the Jain Foundation who is the funder of the study attributed in the manuscript</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Cnaan</surname><given-names>Avital</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1. Member, External Adviosry Committee (EAC), NIH/NIDDK, Chronic Kidney Disease in Children, 2. Member, Pediatric Advisory Committee, FDA (end date 6/30/2017).</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>1. Department of Defense/USAMRAMC,W81XWH-04-1-0851, Dir Coord Ctr, 2008-2016 2. NIH/NINDS -NS045911, Statistician,2008- 2016 3. Dept of Defense/USAMRAA W81XWH-09-1-0592, Principal Investigator,2009 ? 2016 4. Dept of Education,H133B090001, Dir, Coord Ctr, 2009- 2016 5. NIH/NCATS-UL1RR031988 /UL1TR000075, Director of DEB Component, 2010-2015 6. NIH/NIAMS- AR061875, Dir. Coord Ctr 2011-2016 7. NIH/NIAMS - AR0623805, Dr. Coord Ctr 2011-2016 8. NIH/NICHD - HD040677, Core Assoc Dir, 2011-2016 9. NIH/NICHD - HD058567, Dir Coord Ctr, 2012-2017 10. Dept of Defense/USAMRAA, W81XWH-12-1-0417, 2012-2016, Principal Investigator 11. PCORI, 0057, 2013-2015. 12. Dept of Defense/USAMRAA, W81XWH-15-1-0508, 2015-2018, Dir of Coord Ctr.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>1. Jain Foundation 2. Foundation to Eradicate Duchenne</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bharucha-Goebel</surname><given-names>Diana X.</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>T32 AR 56993-4 (2013-2016)</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Blamire</surname><given-names>Andrew M.</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) European Commission, 602485, PI, 2013-2017 (2) EPSRC, EP/L012189/1, PI, 2014-2017 (3) European Commission, 667078, co-I, 2016-2019</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) UK Academy of Medical Sciences, 2012-2014 (2) Arthritis Research UK, 2012-2015 (3) Alzheimer's Society UK, 2014-2016</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bravver</surname><given-names>Elena</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Carlier</surname><given-names>Pierre G.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1_ non profit_ Chairman of the EU FP7 BIOIMAGE project.</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>Journal of Neuromuscular Diseases, editorial advisory board member since 2014</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>Commercial, ProSensa, Leiden, The Netherlands</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>EU FP7 SCOPE NMD - work package leader - 2013-2015 EU FP7 BIOMIMAGE - work package leader - 2013-2016 EU FP7 SKIP NMD - participant - 2012-2015 France Life Imaging, 2013, grant for equipement</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Day</surname><given-names>John W.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1 - Combined commercial and non-profit, 2012-2016; FOR-DMD evaluation of steroid dosing in Duchenne muscular dystrophy, Funded by NIH, PPMD, Marathon Pharmaceuticals; role: DSMB- chair.</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>1) Non-profit for myotonic dystrophy cognitive function in adolescents; from family benefactor 2) Non-profit for myotonic dystrophy genotype-phenotype correlations; from family benefactor</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>1) Cytokinetics, Inc. travel to NY, advisory meeting (2015) 2) Biogen, Inc. travel to Boston, advisory meeting (2015, 2016) 3) Roche, Inc. travel to Istanbul, investigators? meeting (2015) 4) Isis Pharamceuticals, travel to San Diego and Miami, investigators? meetings (2015) 5) Spinal Muscular Atrophy Foundation, travel to NY for annual conference (2015) 6) Parent's Project Muscular Dystrophy, travel to Washington, DC for advisory committee (2015) 7) Myotonic Dystrophy Foundation, travel to Washington, DC for advisory committee (2014, 2015, 2016) 8) American Association of Pediatrics, travel to conference and presentation honorarium (2014) 9) Myotonic Dystrophy Foundation, travel to Miami, FL (2016) 10) Biogen, SMA Advisory committee, travel to Rome, Italy (2015) 11) PPMD, DMD Scientific Advisory Committee, Tampa, FL (2016) 12) Carrel-Krusen Organization, Honoraria and Travel, Dallas, TX (2016)</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) Patent on Myotonic Dystrophy type 2 genetic testing, licensed to Athena Diagnostics (2) Patent on Spinocerebellar Ataxia type 5 genetic testing, licensed to Athena Diagnostics</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>Stanford University, Departments of Neurology and Neuroscience, Pediatrics</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1) Isis Pharmaceuticals ? Myotonic Dystrophy Advisor 2) Biogen, Inc. ? SMA Advisory Board 3) Cytokinetics, Inc. ? SMA Advisor 4) Sarepta Therapeutics ? Duchenne Advisor 5) PTC Therapeutics - Duchenne Advisor</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Genzyme Corporation, Site PI, 2008-2014 (2) Isis Pharmaceuticals ? SMA and myotonic dystrophy research, Site PI, 2013-2015 (3) Sarepta Pharmaceuticals? Duchenne muscular dystrophy research, Site PI, 2015 (4) Cytokinetics, Inc - SMA research, Overall PI, 2016 (5) Genzyme, Inc - Pompe research, Site PI, 2016 (6) BioMarin Pharma - Pompe research, Site PI, 2016</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(3) NIH/NINDS, NS058901, Project PI, 2008-2015</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Muscular Dystrophy Association, PI, 2011-2015 (2) Myotonic Dystrophy Foundation, PI, 2014-2015 (3) Spinal Muscular Atrophy Foundation, PI, 2015</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>(1) DM2 genetic testing, Athena Diagnostics, 2002-2015 (2) SCA5 genetic testing, Athena Diagnostics, 2007-2015</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Díaz-Manera</surname><given-names>Jordi</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>Genzyme, speaker honoraria and travel grant</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Eagle</surname><given-names>Michelle</given-names></name><degrees>PT, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) PTC advisory board (2) Biomarin advisory board (3) Catabasis advisory board</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>PTC Therapeutics Master Class in DMD</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>ATOM International Ltd Managing Director One year</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>Consultancy agreements with: (1) Pfizer (2) PTC (3) Acceleron (4) BMS (5) Biomarin (6) Fibrogen (7) Capricor (8) Catabasis</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Grieben</surname><given-names>Ulrike</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Harms</surname><given-names>Matthew</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>Biogen Idec Merck Pharmaceuticals Ultragenyx Pharmaceuticals</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NIH/NINDS PI 2009-2016</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Columbia University</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Hope Center for Neurological Disorders ALS Association</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Kristi J.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>BioMarin Drisapersen Scientific Advisory Board London, 2015 Biogen SMA Australian Scientific Advisory Board Sydney, 2015</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Lochmüller</surname><given-names>Hanns</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) German Duchenne parents project (2)IRDiRC Interdisciplinary Scientific Committee (3)German Muscular Dystrophy Network (4) Myotubular Trust Patient Registry (5) Action Duchenne Patient Registry (6) German Patient Registries on DMD and SMA</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>(1)PTC Therapeutics Inc, honorarium for lecture at satellite symposium ICNMD Nice 2014 and travel paid to Newcastle University (2)Ultragenyx Pharmaceutical Inc., travel</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>(1) Journal of Neuromuscular Diseases, Editor in Chief, 2014-current (2)Journal of Neurology, Editorial Board Member, 2007-current</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1)Roche Pharmaceuticals (paid to Newcastle University) (2)ASD Therapeutics Partners LLC (paid to Newcastle University) (3)IOS Press (paid to Newcastle University) (4)Alexion Pharmaceuticals Inc.(paid to Newcastle University) (5)Ultragenyx Pharmaceutical Inc.(paid to Newcastle University) (6) Fondazione Cariplo (paid to Newcastle University)</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Marigold Foundation Ltd (2)Ultragenyx Pharmaceutical Inc (3)PTC Therapeutics Inc (4)Eli Lilly and co (5)Action Benni & Co e.v (6)GSK (GlaxoSmithKline) (7)Trophos SA</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1)European Commission (RD-Connect), 305444, Coordinator, 2012-2018 (2) European Commission (OPTIMISTIC), 305697, co-investigator, 2012-2016 (3)European Commission (NeurOmics), 305121, co-investigator, 2012-2017 (4)Medical Research Council (MRC) G1002274, 98482, co-investigator, 2015-2016 (5)Medical Research Council (MRC), co-investigator, 2013-2018 (6)National Institute for Health Research (NIHR)PD00402, 2015-2017</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1)Action Duchenne, (2) Association Francaise Contre les Myopathies (3)British Heart Foundation (4)Muscular Dytrophy UK (5)National Cancer Institute (6) Spinal Muscular Atrophy Support UK (7)Wellcome Trust (8)Jennifer Trust (9)Duchenne Parent Project</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Mendell</surname><given-names>Jerry R.</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>1) Consultant to AveXis Therapeutics 2) Consultant to Serapta Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>1) Consultant to AveXis Therapeutics 2) Consultant to Serapta Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>1) Support for clinical trial sponsored by AveXis Therapeutics 2)Support for clinical trial sponsored bySerapta Therapeutics</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Nationwide Children's Hosptial Foundation</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>MDA Clinical Research Network (MDA259206) Jesse's Journey</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Mori-Yoshimura</surname><given-names>Madoka</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Paradas</surname><given-names>Carmen</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) Computerized image analysis method for the diagnosis of neuromuscular diseases</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) Andalusia Government (Consejeria de Salud,Spain),DP- 0039-2011, as a support for a fellowship during 1 year</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Pegoraro</surname><given-names>Elena</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>PTC Pharmaceuticals, commercial entity</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>Received funding for travel and educational support from Genzyme</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Received institutional support from the University of Padova for genetic research (1998-present)</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Funded by Italian Telethon (2008-present) e by Italian Ministry of Health</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Pestronk</surname><given-names>Alan</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Myositis Association, scientific advisory board</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>Myositis Association: Travel reimbursement for visiting talks at University medical center Grand Rounds</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) TS-HDS antibody 7,175,989, issued 2007; (2) GALOP antibody 6,121,004, issued 2000; (3) GM1 ganglioside antibody 6,077,681, issued 2000; (4) Sulfatide antibody 6,020,140, issued 1995</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>Athena, speaker honoraria 2007-2009 The Myositis Association 2014-2016</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Genzyme, (2) Insmed, (3) Knopp, (4) Ultragenyx, (5) Ionis, (6) Sanofi, (7) Cytokinetics, (8) GSK, (9) Biogen, (10) CSL Behring (11) Biomarin</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NIH</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>Washington University Neuromuscular Research Fund</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) CINRG Children's Hospital Washington DC, Investigator 2007-2009; (2) Muscular Dystrophy Association, Investigator 2007-2009</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>Johnson & Johnson, hold stock</p></list-item></list></p><p><list list-type="order"><title>License fee payments, Technology or Inventions:</title><list-item><p>Antibody testing, Athena</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>(1) GALOP antibody 6,121,004, issued 2000; (2) GM1 ganglioside antibody 6,077,681, issued 2000; (3) Sulfatide antibody 6,020,140; issued 1995</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Salort-Campana</surname><given-names>Emmanuelle</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Schreiber-Katz</surname><given-names>Olivia</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>Deutsche Gesellschaft f?r Muskelkranke (DGM e.V), funding to speak at conference; Novartis, funding of travel expenses (study PI meeting)</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Semplicini</surname><given-names>Claudio</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Spuler</surname><given-names>Simone</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>German Research Foundation (DFG, KFO192, SP1152/8-1)</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Jain Foundation</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Stojkovic</surname><given-names>Tanya</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>I received honororia from the laboratory</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Straub</surname><given-names>Volker</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1)Pfizer, advisory board, for past 2 years (2)Italfarmaco S.p.A., advisory board, for past year (3)Audentes Therapeutics, advisory board, for past 2 years (4)Bristol-Myer Squibb, advisory board, for past year (5)Summit Therapeutics, advisory board, for past year (6)Tivorsan, advisory board, for past year (7)Gene therapy trial at Nationwide Children's Hospital, Ohio, US; Data Safety Monitoring Board</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>(1) Sanofi Genzyme, travel expenses and/or honoraria for lectures or educational activities related to Pompe disease and next generation sequencing.</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>(1) Neuromuscular Disorders, editorial board member, 6 years (2) Journal of Neuromuscular Diseases, editorial board, second year (3) PLOS Currents Muscular Dystrophy, Board of Reviewers, 3 year</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1) Sanofi Genzyme</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1)Sanofi Genzyme, clinical trial funding as UK chief investigator (2)BioMarin, clinic trial funding as UK chief investigator (3)Ionis Pharmceuticals, clinic trial funding as a principal investigator (4) Sarepta Therapeutics, clinical trial funding as a principal investigator (5) I have a research collaboration on a sequencing project funded by Ultragenyx and Sanofi Genzyme.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) Funding from the European Commission (2) Funding from the UK Medical Research Council</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>(1) funding from Newcastle University</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) funding from the Parent Project Muscular Dystrophy (2) funding from Association Francaise Contre les Myopathies (3) funding from the LGMD2I Research Fund (4) funding from the Wellcome Trust (5) funding from the Sylvia Aitken Charitable Trust (6) funding from Muscular Dystrophy UK (7) funding from Action Medical Research</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Takeda</surname><given-names>Shin'ich</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) Myology Institute in Paris (2) National Center for Child Health and Development, Japan</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for travel or speaker honoraria:</title><list-item><p>(1) Japanese Society of Neurology, speaker honoraria (2) Pharmaceutical and Medical Device Regulatory Science Society of Japan, speaker honoraria (3) International Collaboration Forum of Human Gene Therapy for Genetic Disease, speaker honoraria (4) Japan Health Sciences Foundation, speaker honoraria (5) Jichi Medical University, speaker honoraria (6) MSD K.K., speaker honoraria (7) The Japan Society of Human Genetics, speaker honoraria (8) Chugai Pharmaceutical Co. Ltd., speaker honoraria (9) Eisai Co. Ltd, speaker honoraria</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>(1) J. Neuromuscular Diseases, Associate editor for reviews, 2013- (2) Am. J. Pathology, Associate editor, 2014- (3) Neuromuscular Disorders, Editorial board member, 2015-</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) Antisense nucleic acid, sequence for exon 53 skip (2) Antisense nucleic acid, sequence for exon 44 skip (3) Antisense nucleic acid, sequence for exon 51 skip (4) Antisense nucleic acid, sequence for block skip</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>(1) Translational Research in Muscular Dystrophy, Springer, 2016</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1) Ono Pharmaceutical Co. Ltd. (2) Chugai Pharmaceutical Co. Ltd. (3) Taiho Pharma (4) Daiichisankyo Co. Ltd. (5) Takeda Pharmaceutical Co. Ltd.</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Taiho Pharma (2) GlaxoSmithKline K.K. (3) Nippon Shinyaku Co. Ltd. (4) TAKARA BIO INC. (5) JCR Pharmaceuticals Co., Ltd.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) Japan Agency for Medical Research and development (AMED), Practical Research Project for Rare /Intractable Diseases, #16ek0109154h0002, Principal Investigator, 2015-2018. (2) AMED, Practical Research Project for Rare/Intractable Diseases, #16ek0109169h0003, Principal Investigator, 2014-2017. (3) AMED, Promoting Clinical Trails for Development of New Drugs and Medical Devices, #16lk0201006h0005, Principal Investigator, 2012- 2017. (4) AMED, Research Center Network for Realization of Regenerative Medicine, Project for Technological Development, #16bm0404001h0004, Principal Investigator, 2013-2019. (5) AMED, Research Center Network for Realization of Regenerative Medicine, The Program for Intractable Diseases research utilizing Disease-specific iPS cells, 16bm0609005h0005, Site Investigator, 2013- 2018 (6) Ministry of Education, Sports, Science and Technology (MEXT), Grants-in-AId for Scientific Research (B), Principal Investigator, 2013- 2016.</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>(1) National Center of Neurology and Psychiatry (NCNP), Intramural Research Grant, #28-06, Principal Investigator, 2016-2019. (2) NCNP, Intramural Research Grant, #25-05, Principal Investigator, 2013-2016. (3) National Cerebral and Cardiovascular Center (4) National Center for Child Health and Development</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Rocha</surname><given-names>Carolina Tesi</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Advisory Board Sarepta and Marathon.</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1)Advance Medical</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Walter</surname><given-names>M.C.</given-names></name><degrees>MD, MA</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) Novartis Pharma GmbH EU Local Advisory Board Meeting on April 15, 2013 on the topic of Sporadic Inclusion Body Myositis (sIBM), (2) Steering Committee for a Prospective Observational Study in Sporadic Inclusion Body Myositis (sIBM), RTI HS, July 2014, (3) Ataluren (Translarna?) Advisory Board Meeting, PTC Therapeutics, November 2014, (4) National Advisory Board Olesoxime ? SMA, Roche Pharma AG, December 2015, (5) Advisory Board Meeting sIBM, Novartis Pharma GmbH, February 2016, (6) Advisory Board Meeting Clinical Research in DMD, Gr?nenthal Pharma AG, February 2016 (7) SMA Advisory Board Meeting AveXIS, April 2016</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>(1) EMG Seminar, Vienna, Krankenhaus Hietzing mit NZ-Rosenhuegel, travel and speaker honoraria, April 2014 (2) BYM338B2203 EU Investigator Meeting, Novartis Pharma GmbH, travel and accommodation, February 2013 (3) Talk ?Update Muskeldystrophien?, Biogen Pharma GmbH, speaker honoraria, October 2013 (4) Talk ?Update sIBM?, Novartis Pharma GmbH, speaker honoraria</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>Consultancies from (1) Guidepoint Global, (2) GLG Consult and (3) Olson Research on the topic of muscular dystrophies, spinal muscular atrophy, myasthenia, LEMS and from (4) Novartis on the topic of IBM</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Glaxo Smith Kline GmbH, DMD BOI (2) Trophos AG (now Roche Pharma AG), SMA-TRO19622CLEQ1275-1 (3) Grifols GmbH, Gamedis Study (4) Novartis Pharma GmbH, IBM registry</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>Federal Ministry of Education and Research, Bonn, Germany, MD-NET 01GM0601, 2009-2013, and CMT-NET 01GM1511B, 2016-2019</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Jain Foundation, Dysferlinopathy Natural History Study, ongoing (2) Deutsche Gesellschaft f?r Muskelkranke, MFM patient registry, 04-2014 (2) Association contre les Myopathies (AFM) DdT2 2010 Funding Rech Translat ARD/SS/2010/2077/Following number 15037/CA 15/07/10 DRD10/PHYLO/DEPRE/MNCMT/ALLEM, CMT registry (3) Friedrich-Baur-GmbH, Burgkunstadt, ?Oberfrankenprojekte?, 12/11 - 12/16</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Bushby</surname><given-names>Kate</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Acceleron, AVI Biopharma, GSK, Genzyme, Prosensa, PTC, Santhera, ELIXER, BioMarin Pharmaceuticals (all moneys payable to Newcastle University).</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>Neuromuscular Disorders Member of Editorial Board to 2011.</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>Disorders of Voluntary Muscle 2010, Cambridge University Press. Ed Karpati, Hilton Jones, Bushby and Griggs</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>Newcastle University, Action Research Professor of Neuromuscular Genetics</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>See above (SABs) also Debiopharm, Lilly Pharmaceuticals, Summit Corporation, Insight Research Group, Galapagos SASU, Shire Human Genetics Therapies Inc., Amsterdam Molecular Therapeutics, European Neuromuscular Centre, Bristol-Meyers Squibb Company, Solid Ventures LLC</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>Trial support from PTC, AVI and Pfizer Global Research and Development</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>Grant support from Medical Research Council UK, The European Union, NIH, NHS England, US Department of Defence</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Muscular Dystrophy Campaign, Association Francaise contre les myopathies, INC Research, Duchenne Children's Trust, British Heart Foundation, Duchenne Parent Support, Wellcome Trust, Muscular Dystrophy Group of GB, Parent Project Muscular Dystrophy</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><collab>For the Jain COS Consortium</collab></contrib><aff>From The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital, Aix-Marseille Université, France; Department of Neurology (O.S.-K., M.C.W.), Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany; and Institut de Myologie (T.S.), AP-HP, G.H. Pitié-Salpêtrière, Boulevard de l'Hôpital, Paris, France.</aff></contrib-group><author-notes><corresp id="cor1">Correspondence to Dr. Bushby: <email>kate.bushby@newcastle.ac.uk</email></corresp><fn fn-type="financial-disclosure"><p>Funding information and disclosures are provided at the end of the article. Go to <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000089">Neurology.org/ng</ext-link> for full disclosure forms. The Article Processing Charge was paid by the University of Newcastle.</p></fn><fn fn-type="other"><p>Coinvestigators are listed at <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000089">Neurology.org/ng</ext-link>.</p></fn></author-notes><pub-date pub-type="epub"><day>04</day><month>8</month><year>2016</year></pub-date><pub-date pub-type="collection"><month>8</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>8</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>2</volume><issue>4</issue><elocation-id>e89</elocation-id><history><date date-type="received"><day>18</day><month>3</month><year>2016</year></date><date date-type="accepted"><day>16</day><month>6</month><year>2016</year></date></history><permissions><copyright-statement>© 2016 American Academy of Neurology</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>American Academy of Neurology</copyright-holder><license license-type="open-access"><license-p>This is an open access article distributed under the terms of the <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">Creative Commons Attribution License 4.0 (CC BY)</ext-link>, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xlink:title="pdf" xlink:href="NG2016002162.pdf"></self-uri><abstract><sec><title>Objective:</title><p>To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.</p></sec><sec><title>Methods:</title><p>The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.</p></sec><sec><title>Results:</title><p>There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies.</p></sec><sec><title>Conclusions:</title><p>These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.</p></sec></abstract><funding-group><award-group><funding-source>Medical Research council</funding-source><award-id>Grant number MR/K000608/1</award-id></award-group><award-group><funding-source>NIH/National Institute of Neurological Disorders and Stroke</funding-source></award-group><award-group><funding-source>European Commission</funding-source></award-group><award-group><funding-source>Medical Research Council</funding-source></award-group><award-group><funding-source>Wellcome Trust</funding-source></award-group></funding-group><custom-meta-group><custom-meta><meta-name>OPEN-ACCESS</meta-name><meta-value>TRUE</meta-value></custom-meta></custom-meta-group></article-meta></front><body><p>Dysferlinopathy is a term for a group of rare muscular dystrophies with recessive mutations in the <italic>DYSF</italic> gene, which encodes the skeletal muscle protein dysferlin.<sup><xref rid="R1" ref-type="bibr">1</xref>,<xref rid="R2" ref-type="bibr">2</xref></sup> Two major phenotypes are Miyoshi myopathy (MM),<sup><xref rid="R3" ref-type="bibr">3</xref></sup> presenting with distal weakness and limb-girdle muscular dystrophy type 2B (LGMD2B),<sup><xref rid="R4" ref-type="bibr">4</xref>,<xref rid="R5" ref-type="bibr">5</xref></sup> affecting more proximal muscles. Other reported phenotypes include the more rapidly progressive distal myopathy with anterior tibial involvement,<sup><xref rid="R6" ref-type="bibr">6</xref></sup> proximodistal weakness, and a pseudometabolic presentation.<sup><xref rid="R7" ref-type="bibr">7</xref>,<xref rid="R8" ref-type="bibr">8</xref></sup></p><p>Several studies have reviewed the phenotypes of dysferlinopathy demonstrating a high degree of variability in the initial pattern of weakness. Symptom onset in young adulthood, highly elevated serum creatine kinase (CK), and characteristic MRI pattern are generally consistent.<sup><xref rid="R2" ref-type="bibr">2</xref>,<xref rid="R8" ref-type="bibr">8</xref><xref ref-type="bibr" rid="R9">–</xref><xref rid="R14" ref-type="bibr">14</xref></sup> However, patients with atypical features are reported and the full spectrum of dysferlinopathy phenotypes and patterns of disease progression is yet to be fully described.<sup><xref rid="R15" ref-type="bibr">15</xref><xref ref-type="bibr" rid="R16">–</xref><xref rid="R17" ref-type="bibr">17</xref></sup></p><p>As the neuromuscular field moves toward trial readiness, a clearer understanding of the natural history of these rare diseases is essential. This report describes baseline characteristics of participants in the Jain Foundation–funded clinical outcome study—a large cohort of patients with dysferlinopathy, enabling characterization of common and rarer phenotypic features. This work will form the baseline for longitudinal assessment aiming to define distinct disease trajectories and a robust set of outcome measures for clinical trials and to identify areas for improving clinical practice.</p><sec sec-type="methods" id="s1"><title>METHODS</title><p>Inclusion criteria were ≥2 pathogenic mutations in <italic>DYSF</italic>, or 1 pathogenic mutation plus either absent dysferlin expression on immunoblot (IB)<sup><xref rid="R18" ref-type="bibr">18</xref></sup> or ≤20% dysferlin monocyte expression (ME).<sup><xref rid="R19" ref-type="bibr">19</xref></sup> Truncating mutations and splice-site mutations affecting the +1/−1 or 2 positions were deemed pathogenic. Pathogenicity of other splice-site mutations and missense mutations were defined according to the UMD Predictor (<ext-link ext-link-type="uri" xlink:href="http://umd-predictor.eu">http://umd-predictor.eu</ext-link>).</p><p>Patients have 6 visits over 3 years (screening, baseline, 6 months, 1, 2, and 3 years). At each visit, a medical examination is conducted, and quality of life, exercise, and medical history data are collected via questionnaires. Blood is drawn for hematologic and biochemical assays. Patients can choose to provide DNA, RNA, serum, plasma, and skin biopsy for biobanking. Cardiac assessment by ECG and echocardiogram are performed at baseline and 3 years. MRI assessment (to be reported separately) includes lower limb T1W, T2, 3-point Dixon (lower limb), and magnetic resonance spectroscopy evaluation (3 sites) at baseline, 1, 2, and 3 years.</p><p>Physiotherapists, trained and assessed in investigator meetings, perform evaluations at each visit. They assess respiratory function (sitting forced vital capacity [FVC]), muscle strength (Manual Muscle Testing [MMT]), and functional status (adapted North Star Ambulatory Assessment [a-NSAA] in ambulant patients, timed tests [rise from floor (RFF), 10-m walk/run, 4 stair climb and descend, Timed Up and Go (TUG)], and 6-minute walk). Assessments were reviewed for consistency between screening and baseline by lead physiotherapists from Newcastle.</p><p>The a-NSAA is based on the validated NSAA, a 17-item scale with a maximum score of 34 used in Duchenne muscular dystrophy. This was adapted adding items relevant to ambulatory ability in dysferlinopathy creating a 22-item scale with a maximum score of 51 (table e-1 at <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000089">Neurology.org/ng</ext-link>).</p><p>Using a-NSAA and ambulatory status, the cohort was stratified into mild (a-NSAA 40–51), moderate (a-NSAA 6–39), or severe (a-NSAA ≤5 or nonambulant) groups. Ambulation status was determined by the ability of patients to walk 10 m with shoes and usual walking aids or orthotics. Medical Research Council (MRC) power grades, timed tests, and respiratory status were reported according to this stratification.</p><p>For analysis, 5-point MRC power grades for MMT were converted to an 11-point scale (0, 1, 2, 3−, 3, 3+, 4−, 4, 4+, 5−, and 5).</p><p>Statistical analysis was performed using Prism software (GraphPad Software Ltd., La Jolla, CA). Demographics were collected for ethnicity, sex, age, ambulatory status, years symptomatic, and mutation details. Median values and ranges were calculated for the number of years symptomatic, age at symptom onset, age at diagnosis, and MMT analysis. Mean values (SD and ranges) were calculated for serum CK, serum creatinine, and serum urea. Percent predicted FVC and timed tests (10-m run, TUG, RFF, stair ascend, descend, and 6-minute walk test) are stratified by disease severity. MMT median values were also stratified by disease severity and analyzed for symmetry between right and left, anterior and posterior, and upper and lower limb muscle groups using the Wilcoxon signed-rank test, considering a <italic>p</italic> value of less than 0.05 statistically significant.</p><sec id="s1-1"><title>Standard protocol approvals, registrations, and patient consents.</title><p>All study participants provided informed consent. The study was approved by ethical review boards in each country.</p></sec></sec><sec sec-type="results" id="s2"><title>RESULTS</title><sec id="s2-1"><title>Study demographics.</title><p>Included were 193 patients from 15 sites (Newcastle, Barcelona, Seville, Munich, Berlin, Padova, Marseille, Paris, Saint Louis, Columbus, Charlotte, Washington, DC, Stanford, Tokyo, and Sydney) representing 8 countries (United Kingdom, Spain, Germany, Italy, France, the United States, Japan, and Australia). Participants' ethnicities were white (71%), Asian (17%), black (3%), Hispanic (6%), and other (3%). Participants were 52% female and 48% male. Ages range from 12 to 88 years (mean age 40 years). Participants were 75% ambulant (36% male/39% female) and 25% nonambulant (13% male/12% female). At assessment, the majority reported symptoms for 25 years or less (77%). Median symptom duration was 17 years (range 3–52 years).</p></sec><sec id="s2-2"><title>Genetic and protein expression findings.</title><p>In total, 175 different mutations were observed (table e-2), 112 only in a single individual; 49.2% of mutations were truncating: 32.8% frameshift and 16.4% nonsense. The remainder were missense (32.8%), splice-site (17.5%), or in-frame duplication (0.6%).</p><p>Mutations were widely distributed throughout the gene. <xref ref-type="table" rid="T1">Table 1</xref> shows the most frequently observed mutations. Two previously reported founder mutations were identified: c.2779delG,<sup><xref rid="R20" ref-type="bibr">20</xref></sup> in 3 individuals with Hispanic ethnicity and c.5713C>T,<sup><xref rid="R21" ref-type="bibr">21</xref></sup> observed in 4 individuals of diverse ethnicities.</p><table-wrap id="T1" orientation="portrait" position="float"><label>Table 1.</label><caption><p>Frequent mutations</p></caption><graphic xlink:href="NG2016002162TT1"></graphic></table-wrap><p>Eighty-four percent of participants had 2 pathogenic mutations in <italic>DYSF</italic>. Thirteen percent had a single heterozygous mutation and absent or reduced (i.e., <20%) dysferlin expression on IB or ME. Three percent had >2 pathogenic mutations.</p><p>Dysferlin ME, IB, or immunohistochemistry (IH) data were available for 153 (79%) patients. Of these, 68% had absent and 30% had reduced dysferlin expression. Symptom onset age did not vary according to dysferlin expression levels. Normal dysferlin expression was observed in 3 individuals who presented with moderate or severe disease.</p><p>Of the 40 patients (21%) with no protein expression data, 28 had 2 clearly deleterious mutations (frameshift, splice-site, or nonsense), 8 had 1 clearly deleterious mutation and 1 missense mutation that was predicted to be pathogenic by the UMD predictor, and 4 patients had 2 missense mutations predicted to be pathogenic. There was no relationship between genotype (homozygosity for missense, splicing, or truncating mutations) and protein expression, age at onset, or disease severity.</p></sec><sec id="s2-3"><title>Symptom onset and diagnosis.</title><p>Self-reported age at “first muscle symptoms” ranged from 3 to 60 years (median 19 years) (<xref ref-type="fig" rid="F1">figure 1</xref>). Most patients had symptoms preceding diagnosis; however, 24% were diagnosed after an incidental finding of elevated CK and 13% after diagnosis in a relative.</p><fig id="F1" orientation="portrait" position="float"><label>Figure 1.</label><caption><title>Age of patients at symptom onset and diagnosis</title><p>The mean time from onset to diagnosis was 6 years.</p></caption><graphic xlink:href="NG2016002162FF1"></graphic></fig><p>Initial symptoms varied, with some patients reporting multiple symptoms. Most commonly reported was lower limb weakness (72%); this was proximal (15%), distal (32%), or both (25%). Upper limb weakness was less common (7%). Others described muscle wasting (27%—predominantly distal lower limbs), pain, stiffness, or cramps (13%), or pseudohypertrophy (6%—predominantly distal lower limbs). Seventeen percent described onset following trauma or illness, but the majority described symptom onset over months.</p><p>Prior to symptom onset, 80% reported frequent participation in sports; daily (13%) or several times a week (42%). Forty-four percent reported “average” sporting ability, with 19% competing at the regional or national level.</p><p>The median age at confirmed diagnosis was 25 years (range 3–62 years) (<xref ref-type="fig" rid="F1">figure 1</xref>). Mean time from symptom onset to diagnosis in the 1970s was 20.5 years (SD 10.7), falling to 3.1 years (SD 2.6) with onset in 2000s. Patient-reported clinical diagnoses were LGMD2B (60%), MM (30%), proximodistal dysferlinopathy (6%), hyperCKemia (3%), and “other” including paravertebral muscular dystrophy or pseudometabolic dysferlinopathy (2%). Clinical diagnosis varied by research site but not by patient ethnicity or age at symptom onset. MM was the most common diagnosis in Japan: odds ratio (OR) 7.01 (2.10–23.46) and LGMD2B in England: OR 6.12 (2.28–16.25).</p><p>An initial diagnosis of polymyositis was reported by 16%, and 25% reported previous corticosteroid use. There were geographical differences in prior steroid use, with none in Australia and >60% in Germany, possibly because of a previous clinical trial.<sup><xref rid="R22" ref-type="bibr">22</xref></sup></p><p>The longer the duration of symptoms, the greater proportion of patients with severe disease (<xref ref-type="fig" rid="F2">figure 2</xref>). However, 2 patients with symptoms for over 30 years remain mildly affected. Four patients, aged 16 to 30, reported no muscle symptoms.</p><fig id="F2" orientation="portrait" position="float"><label>Figure 2.</label><caption><title>Patient stratification by the reported duration of symptoms and disease severity at the time of assessment</title><p>The percentage of patients within each severity category is given. Severity is defined as mild if the adapted North Star Ambulatory Assessment score is 40–51, moderate: 6–39, severe: 5 or less or nonambulatory. Symptomatic patients for whom sufficient data were available to assign severity were included (n = 182). Numbers of patients within each category are as follows: mild n = 34, moderate n = 89, severe n = 59.</p></caption><graphic xlink:href="NG2016002162FF2"></graphic></fig></sec><sec id="s2-4"><title>Physical examination.</title><p>Thirty-six percent of patients had joint contractures, commonly affecting ankles, knees, and elbows. Muscle wasting was observed in 80% of patients most commonly in distal lower limbs (71%). Pseudohypertrophy was noted in 11%; usually in distal lower limbs but sometimes proximal lower limbs, upper arms, shoulders, or neck. Additional features observed include scoliosis (8%), rigid spine (7%), tremor (5%), facial weakness (3%), tongue fasciculations (3%), dysarthria (0.5%), or myotonia (0.5%).</p></sec><sec id="s2-5"><title>Clinical investigations.</title><p>Mean serum CK at baseline was 4,562 IU/L (SD 3,937; range 209–23,124 IU/L) with values falling with increasing age and disease duration. Serum creatinine was abnormally low in 70% of patients (mean 36.7 μmol/L; range 11–145 μmol/L, SD 18), likely reflecting reduced muscle mass. Mean serum urea was within normal range (mean 6.2 mmol/L; range 1.1–23.9 mmol/L and SD 3.4 mmol/L). Elevated alanine aminotransferase (91%) and aspartate transaminase (93%) levels were seen in most patients, consistent with muscular dystrophy. Elevated alkaline phosphatase (6%) and total bilirubin (9%) was less common.</p></sec><sec id="s2-6"><title>Baseline MMT.</title><p>The characteristics of the median MMT values are summarized in <xref ref-type="fig" rid="F3">figure 3</xref>. Strength was better preserved in upper limbs than lower limbs: median MMT scores 8/10 vs 3/10, respectively (<italic>p</italic> ≤ 0.0001) There was no asymmetry between right and left in any muscle group. Analysis of MMT scores in posterior vs anterior muscle groups in the lower limbs demonstrated a difference in hip muscles with hip flexion stronger than extension (hip flexion score 6/10, extension 3/10 [<italic>p</italic> < 0.0001, Wilcoxon signed-rank test]).</p><fig id="F3" orientation="portrait" position="float"><label>Figure 3.</label><caption><title>Comparison of median manual muscle test scores in the upper and lower limbs</title><p>Data were available for 189 study participants. The 5-point Medical Research Council power grade was converted to an 11-point scale (0, 1, 2, 3−, 3, 3+, 4−, 4, 4+, 5−, and 5). Observed Manual Muscle Testing scores ranged from 0 or 1 to 10 for each movement assessed, with the exception of wrist extension for which the lowest observed score was 2. Overall, the most severely affected muscle groups were hip adduction, extension, knee flexion and extension, and ankle plantar flexion, dorsiflexion, and eversion. The least severely affected muscle groups were wrist flexion and extension. Red indicates the upper limb muscles and blue indicates the lower limb muscles. COS = Clinical Outcome Study.</p></caption><graphic xlink:href="NG2016002162FF3"></graphic></fig><p>MMT was evaluated depending on disease severity scores. In the mild cohort, median MRC power was ≥4 in all muscle groups, with lower limbs generally weaker than upper limbs. Elbow and wrist flexion and extension, knee extension, and ankle inversion, eversion, and dorsiflexion were typically of normal power. In the moderate cohort, on average, lower limbs were weaker in all muscle groups than upper limbs with median MRC scores of ≤4 and ≥4, respectively. Hip adduction was weakest (median MRC 2.5), and wrist flexion and extension were strongest (median MRC 5−). In the severe cohort, lower limb proximal and distal muscle groups were similarly affected (median MRC 1 or 2, with the exception of hip abduction MRC 3−). Ankle dorsiflexion, eversion, and plantar flexion were weakest (median MRC grade 1). In upper limbs, there was proximal weakness (median MRC 3−) with distal strength preservation (wrist flexion/extension median MRC 4−/4+).</p><p>When baseline timed tests were stratified by disease severity (<xref ref-type="table" rid="T2">table 2</xref>), there was overlap between groups, indicating the variability of physical ability within the cohort.</p><table-wrap id="T2" orientation="portrait" position="float"><label>Table 2.</label><caption><p>Respiratory function and timed tests by disease severity</p></caption><graphic xlink:href="NG2016002162TT2"></graphic></table-wrap></sec><sec id="s2-7"><title>Cardiac findings.</title><p>Impaired left ventricular function, defined as ejection fraction <55%, was detected by study-related echocardiography in 7 patients (aged 29–69) and will be further evaluated by cardiac MRI. To date, 3 of these are completed—2 are normal and 1 confirms cardiomyopathy (patient aged 51). One additional patient had cardiomyopathy diagnosed prior to the study, at age 46 years. Of the 2 patients with cardiomyopathy, one had reduced FVC at 67% predicted and used nocturnal ventilation.</p></sec><sec id="s2-8"><title>Respiratory findings.</title><p>Increased disease severity was associated with lower FVC (<xref ref-type="table" rid="T2">table 2</xref>). Nocturnal noninvasive ventilation was used by 4 patients, all of whom reported a diagnosis of sleep apnea, and 3 of whom had a body mass index of >30. Disease severity in these 4 individuals ranged from mild to severe disease with predicted FVC between 50% and 82%.</p></sec><sec id="s2-9"><title>Previous diagnosis.</title><p>Clinical features were evaluated by preexisting clinical diagnosis. All patients with a clinical diagnosis of hyperCKemia fell into the mild category. Patients diagnosed as LGMD2B or MM were seen in mild, moderate, and severe groups. Median MMT values were similar between LGMD2B and MM groups, with proximal and distal lower limb weakness and predominantly proximal upper limb weakness. Ankle inversion was better preserved in LGMD2B patients (median MRC 4− vs median MRC 2 in MM). Patients diagnosed with proximodistal dysferlinopathy were more severely affected, with weakness extending to distal upper limbs (wrist extension median MRC 2, wrist flexion median MRC 3), and none had mild disease. Mean symptom duration was 17 years for the whole cohort. Apart from hyperCKemia, with median 5 years, this did not differ according to clinical diagnosis.</p></sec></sec><sec sec-type="discussion" id="s3"><title>DISCUSSION</title><p>We report the initial findings of an international observational study of patients with genetically confirmed dysferlinopathy. This cross-sectional analysis of a large and geographically diverse cohort of patients highlights both typical features and disease course, and outlying characteristics. This will form the basis for future longitudinal analysis of clinical outcomes, cardiac and respiratory evaluations, and muscle MRI data (the latter being reported separately).</p><p>Inclusion criteria for this study aimed to replicate the strict diagnostic criteria required for clinical trials: all patients have 2 mutations or a heterozygous mutation with additional evidence of absent or disease-range dysferlin protein expression by ME or IB.</p><p>Genetic data from this cohort support the high degree of genetic heterogeneity reported previously.<sup><xref rid="R2" ref-type="bibr">2</xref>,<xref rid="R7" ref-type="bibr">7</xref>,<xref rid="R23" ref-type="bibr">23</xref></sup> One-third of patients have nonsense mutations, indicating that nonsense read-through therapies, now licensed in Europe for use in Duchenne muscular dystrophy, may be a potential therapy for some patients with dysferlinopathy.</p><p>A high percentage of the mutations were missense mutations. Although usually associated with absent or reduced dysferlin expression (table e-2), further analysis is needed to determine the mechanism by which these missense mutations lead to disease. Some investigations link missense mutations to protein instability causing reduced dysferlin levels.<sup><xref rid="R24" ref-type="bibr">24</xref></sup> Others have demonstrated that missense mutations can lead to normal protein expression levels, but abnormal protein localization, which results in clinical disease.<sup><xref rid="R25" ref-type="bibr">25</xref></sup> Assays for the functionality of dysferlin protein with various missense mutations are currently being investigated by the Jain Foundation and may help to refine the diagnostic process in the future.</p><p>Most patients included in this study have absent or reduced dysferlin on IH, IB, or ME. Absence of dysferlin was more commonly noted than reduction, irrespective of the severity of the clinical phenotype or mutation type. We identified 3 patients with 2 <italic>DYSF</italic> missense mutations in whom dysferlin protein levels were normal. The typical diagnostic procedure for dysferlinopathy diagnosis has been to identify absent or reduced dysferlin protein levels and then sequence the dysferlin gene. Therefore, patients with pathogenic <italic>DYSF</italic> mutations and normal dysferlin protein levels are rarely identified.<sup><xref rid="R26" ref-type="bibr">26</xref></sup> As genetic testing becomes more prevalent as a first-line investigation, patients with normal dysferlin levels may be increasingly recognized and caution will be required before generalizing results from this study to that population.</p><p>More than 2 dysferlin mutations were found in 3% of cases. However, aside from one novel mutation (c.6056G>A), all of these missense mutations have previously been associated with reduced dysferlin expression when in the homozygous state or in combination with one other mutation,<sup><xref rid="R7" ref-type="bibr">7</xref>,<xref rid="R25" ref-type="bibr">25</xref><xref ref-type="bibr" rid="R26">–</xref><xref rid="R29" ref-type="bibr">29</xref></sup> which supports their pathogenicity.</p><p>We identified that time from symptom onset to diagnosis has reduced. As our data indicate that 30% of patients are moderately affected within 5 years, earlier diagnosis is likely to reduce unnecessary testing or potentially detrimental steroid treatment.<sup><xref rid="R22" ref-type="bibr">22</xref></sup> As therapies become available, any delay becomes more costly because the window of opportunity to treat may be missed. We hope improved awareness and delineation of the dysferlinopathy phenotype will continue to improve time to diagnosis.</p><p>Dysferlinopathy is often assigned a particular clinical phenotype, most commonly MM or LGMD. The pattern of weakness between patients given these 2 diagnoses did not differ in our study. A clinical diagnosis of proximodistal dysferlinopathy was associated with more severe disease, and this appears unrelated to symptom duration. The 3% patients labeled as hyperCKemia had symptoms for a shorter duration. Longitudinal study will clarify whether this is a presentation of early disease or a distinct phenotype. We noted a number of occasionally reported features, such as tremor or dysarthria, the significance of which is unclear. Above-average sporting ability before symptom onset has been reported previously in dysferlinopathy<sup><xref rid="R10" ref-type="bibr">10</xref></sup> and is supported here with 19% of our cohort participating in sport at the regional or national level. The basis for this remains unknown.</p><p>We stratified patients by a-NSAA score and ambulation status into mild, moderate, and severely affected. This baseline analysis has demonstrated that weakness predominantly affects lower limbs in both proximal and distal muscle groups, regardless of disease severity. Increasing proximal upper limb weakness is connected with more severe disease. An increasing proportion of patients are more severely affected with increasing symptom duration. The rate of disease progression is variable, with >30% of patients mildly or moderately affected ≥30 years from symptom onset, while a similar proportion are severely affected after ≤17 years of symptoms (<xref ref-type="fig" rid="F2">figure 2</xref>). The cause of this variability is not known, but differing presentations within a single family or common genotypes suggest the presence of disease-modifying factors.<sup><xref rid="R30" ref-type="bibr">30</xref>,<xref rid="R31" ref-type="bibr">31</xref></sup> Given this highly variable severity, pattern of weakness and rate of progression in dysferlinopathy, we anticipate that longitudinal data will help to elucidate potentially distinct disease trajectories.</p><p>We observed that 6 patients with moderate or severe disease had an FVC <50%, supporting the need for respiratory function monitoring in moderate or severe disease.<sup><xref rid="R32" ref-type="bibr">32</xref></sup> Four patients used nocturnal ventilation and reported sleep apnea. This may be coincidental as all have FVC ≥50% and 3 patients have body mass index >30. Two patients were identified with cardiomyopathy. Echocardiogram analysis for left ventricular dysfunction will be explored further in this study. Cardiac abnormalities have previously been reported in dysferlinopathy, but whether these are a consequence of dysferlinopathy or an alternative etiology is not established.<sup><xref rid="R9" ref-type="bibr">9</xref>,<xref rid="R32" ref-type="bibr">32</xref><xref ref-type="bibr" rid="R33">–</xref><xref rid="R35" ref-type="bibr">35</xref></sup> Low serum creatinine seen in 70% of patients is relevant for renal function monitoring, as creatinine-dependent methods will be uninformative.<sup><xref rid="R36" ref-type="bibr">36</xref></sup></p><p>This analysis has identified a number of findings pertinent to the clinical care and planning of trials for patients with dysferlinopathy. Diagnosis is frequently delayed. Detailed analysis of muscle strength and function across different clinical diagnoses suggests that distinctions in pattern of weakness between MM, LGMD2B, and other phenotypes are limited. Emerging longitudinal data will allow us to assess whether progression of weakness is also similar, allowing patients with different clinical diagnoses to be considered as a whole in planning clinical studies. A small proportion of patients have respiratory dysfunction and cardiac abnormalities. Although the general phenotype is of a slowly progressive disease manifesting in young adulthood, there are patients with disease onset at extremes of age and divergent rates of progression. The etiology of this variability is unclear but important to understand for clinical trials and developing validated outcome measures. As longitudinal data on this cohort emerge, we anticipate being able to contribute to the trial readiness of this patient group.</p></sec><sec sec-type="supplementary-material"><title>Supplementary Material</title><supplementary-material id="PMC_1" content-type="local-data"><caption><title>Data Supplement</title></caption><media mimetype="text" mime-subtype="html" xlink:href="supp_2_4_e89__index.html"></media><media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_2.4.e89_table_e-1.docx"></media><media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_2.4.e89_table_e-2.docx"></media></supplementary-material><supplementary-material id="PMC_2" content-type="local-data"><caption><title>Coinvestigators</title></caption><media mimetype="text" mime-subtype="html" xlink:href="supp_2_4_e89_v2_index.html"></media><media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_2.4.e89_coinvestigators.docx"></media></supplementary-material></sec></body><back><fn-group><fn fn-type="supplementary-material"><p>Supplemental data at <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000089">Neurology.org/ng</ext-link></p></fn><fn fn-type="other"><p><ext-link ext-link-type="uri" xlink:href="http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000092">See editorial</ext-link></p></fn></fn-group><ack><title>ACKNOWLEDGMENT</title><p>The Jain COS consortium thanks the study participants and their families for their invaluable contribution.</p></ack><sec sec-type="contributions"><title>AUTHOR CONTRIBUTIONS</title><p content-type="contributions">Elizabeth Harris and Catherine L. Bladen contributed to data analysis, drafting, statistics, and writing. Anna Mayhew contributed to data analysis, drafting, and writing. Meredith James contributed to data analysis. Karen Bettinson and Ursula Moore contributed to data analysis and drafting. Fiona E. Smith contributed to drafting. Laura Rufibach and Avital Cnaan contributed to study design and revising for intellectual content. Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, and Pierre G. Carlier contributed to study design. John W. Day and Jordi Díaz-Manera contributed to study design and revising for intellectual content. Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, and Hanns Lochmüller contributed to study design. Jerry R. Mendell contributed to study design and revising for intellectual content. Madoka Mori-Yoshimura and Carmen Paradas contributed to study design. Elena Pegoraro and Alan Pestronk contributed to study design and revising for intellectual content. Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, and Tanya Stojkovic contributed to study design. Volker Straub contributed to study design and revising for intellectual content. Shin'ich Takeda, Carolina Tesi, and M.C. Walter contributed to study design. Kate Bushby contributed to study design, drafting, revising for intellectual content.</p></sec><sec sec-type="funding"><title>STUDY FUNDING</title><p content-type="funding">This study was funded by the Jain Foundation and the John Walton Centre is supported by the Medical Research council (Grant number MR/K000608/1).</p></sec><sec sec-type="disclosure"><title>DISCLOSURE</title><p content-type="disclosure">Elizabeth Harris and Catherine L. Bladen report no disclosures. Anna Mayhew has served on the scientific advisory board of BioMarin; has been a consultant for BioMarin, Pfizer Inc., Sarepta Therapeutics, PTC Therapeutics, Summit Therapeutics, Eli Lilly, and Amicus; and has been involved with clinical procedures/imaging studies for the John Walton MD Centre. Meredith James has been a consultant for BioMarin, Pfizer Inc., Sarapeta Therapeutics, PTC Therapeutics, Summit Therapeutics, Eli Lilly, FibroGen, and Amicus Therapeutics. Karen Bettinson, Ursula Moore, and Fiona E. Smith report no disclosures. Laura Rufibach has served on the scientific advisory board of the Neuromuscular Disease Foundation; has received travel funding from Neuromuscular Disease Foundation; and has received research support from/been an employee of the Jain Foundation. Avital Cnaan has served on scientific advisory boards for NIH/NIDDK and the FDA; and has received research support from the Department of Defense, NIH/National Institute of Neurological Disorders and Stroke, the Department of Education, NIH/NCATS, NIH/NIAMS, NIH/NICHD, PCORI, the Jain Foundation, and the Foundation to Eradicate Duchenne. Diana X. Bharucha-Goebel has received research support from T32 AR 56993-4. Andrew M. Blamire has received research support from the European Commission, EPSRC, the UK Academy of Medical Sciences, Arthritis Research UK, and the Alzheimer's Society UK. Elena Bravver reports no disclosures. Pierre G. Carlier has served on the scientific advisory board for the EU FP7 BIOIMAGE project; has served on the editorial board of the <italic>Journal of Neuromuscular Diseases</italic>; has been a consultant for ProSensa; and has received research support from EU FP7 SCOPE NMD, EU FP7 BIOIMAGE, EU FP7 SKIP NMD, and France Life Imaging. John W. Day has served on a scientific advisory board funded by NIH, PPMD, and Marathon Pharmaceuticals; has received the following gifts: (1) Nonprofit for myotonic dystrophy cognitive function in adolescents, from family benefactor (2) Nonprofit for myotonic dystrophy genotype-phenotype correlations, from family benefactor; has received travel funding/speaker honoraria from Cytokinetics Inc., Biogen Inc., Roche Inc., Isis Pharmaceuticals, the Spinal Muscular Atrophy Foundation, Parent's Project Muscular Dystrophy, Myotonic Dystrophy Foundation, the American Association of Pediatrics, PPMD, and the Carrel-Krusen Organization; holds patents for Myotonic Dystrophy type 2 genetic testing (licensed to Athena Diagnostics) and Spinocerebellar Ataxia type 5 genetic testing (licensed to Athena Diagnostics); has been an employee of Stanford University; has been a consultant for Isis Pharmaceuticals, Biogen Inc., Cytokinetics, Sarepta Therapeutics, and PTC Therapeutics; has received research support from Genzyme Corporation, Isis Pharmaceuticals, Sarepta Pharmaceuticals, Cytokinetics Inc., BioMarin Pharma, NIH/National Institute of Neurological Disorders and Stroke, the Muscular Dystrophy Association, the Myotonic Dystrophy Foundation, and the Spinal Muscular Atrophy Foundation; and has received royalty payments from Athena Diagnostics. Jordi Díaz-Manera has received travel funding/speaker honoraria from Genzyme. Michelle Eagle has served on the scientific advisory boards of PTC, BioMarin, and Catabasis; has received travel funding/speaker honoraria from PTC Therapeutics; has been an employee of ATOM International Ltd.; and has been a consultant for Pfizer, PTC, Acceleron, BMS, BioMarin, Fibrogen, Capricor, and Catabasis. Ulrike Grieben reports no disclosure. Matthew Harms has received research support from Biogen Idec, Merck Pharmaceuticals, Ultragenyx Pharmaceuticals, NIH/National Institute of Neurological Disorders and Stroke, Columbia University, the Hope Center for Neurologic Disorders, and the ALS Association. Kristi J. Jones has served on the scientific advisory boards of BioMarin and Biogen. Hanns Lochmüller has served on the scientific advisory boards of German Duchenne parents project, IRDiRC Interdisciplinary Scientific Committee, German Muscular Dystrophy Network, Myotubular Trust Patient Registry, Action Duchenne Patient Registry, and German Patient Registries on DMD and SMA; has received travel funding/speaker honoraria from PTC Therapeutics Inc. and Ultragenyx Pharmaceuticals Inc.; has served on the editorial boards of the <italic>Journal of Neuromuscular Diseases</italic> and the <italic>Journal of Neurology</italic>; has been a consultant for Roche Pharmaceuticals, ASD Therapeutics Partners LLC, IOS Press, Alexion Pharmaceuticals Inc., Ultragenyx Pharmaceuticals Inc., and Fondazione Cariplo; and has received research support from Marigold Foundation Ltd., Ultragenyx Pharmaceuticals Inc., PTC Therapeutics Inc., Eli Lilly and Co., Action Benni & Co., GlaxoSmithKline, Trophos SA, the European Commission, the Medical Research Council, NIHR, Action Duchenne, Association Francaise Contre les Myopathies, the British Heart Foundation, Muscular Dytrophy UK, the National Cancer Institute, Spinal Muscular Atrophy Support UK, Wellcome Trust, Jennifer Trust, and Duchenne Parent Project. Jerry R. Mendell has been a consultant for AveXis Therapeutics and Serapta Therapeutics; and has received research support from AveXis Therapeutics, Serapta Therapeutics, the Nationwide Children's Hosptial Foundation, and the MDA Clinical Research Network. Madoka Mori-Yoshimura reports no disclosures. Carmen Paradas holds a patent for Computerized image analysis method for the diagnosis of neuromuscular diseases; and has received research support from the Andalusia Government (Consejeria de Salud, Spain). Elena Pegoraro has received travel funding from Genzyme; and has received research support from the University of Padova and the Italian Telethon (Italian Ministry of Health). Alan Pestronk has served on the scientific advisory board of the Myositis Association; has received travel funding from the Myositis Association; holds patents for TS-HDS antibody 7,175,989, GALOP antibody 6,121,004, GM1 ganglioside antibody 6,077,681, and Sulfatide antibody 6,020,140; has served on the speaker's bureaus of Athena and the Myositis Association; has received research support from Genzyme, Insmed, Knopp, Ultragenyx, Ionis, Sanofi, Cytokinetics, GlaxoSmithKline, Biogen, CSL Behring, BioMarin, NIH, the Washington University Neuromuscular Research Fund, the CINRG Children's Hospital Washington, DC, and the Muscular Dystrophy Association; holds stock in Johnson & Johnson; has received license fee payments from Athena; and has received royalty payments for GALOP antibody 6,121,004, GM1 ganglioside antibody 6,077,681, and Sulfatide antibody 6,020,140. Emmanuelle Salort-Campana reports no disclosures. Olivia Schreiber-Katz has received travel funding from Deutsche Gesellschaft für Muskelkranke and Novartis. Claudio Semplicini reports no disclosures. Simone Spuler has received research support from the German Research Foundation and the Jain Foundation. Tanya Stojkovic has received honororia from the laboratory. Volker Straub has served on the scientific advisory boards of Pfizer, Italfarmaco, Audentes Therapeutics, Bristol-Myer Squibb, Summit Therapeutics, Tivorsan, and the Nationwide Children's Hospital (Ohio); has received travel funding/speaker honoraria from Sanofi/Genzyme; has served on the editorial boards of <italic>Neuromuscular Disorders</italic>, the <italic>Journal of Neuromuscular Diseases</italic>, and <italic>PLOS Currents Muscular Dystrophy</italic>; has been a consultant for Sanofi/Genzyme; and has received research support from Sanofi/Genzyme, BioMarin, Ionis Pharmaceuticals, Sarepta Therapeutics, Ultragenyx, the European Commission, the UK Medical Research Council, Newcastle University, the Parent Project Muscular Dystrophy, Association Francaise Contre les Myopathies, the LGMD2I Research Fund, Wellcome Trust, the Sylvia Aitken Charitable Trust, Muscular Dystrophy UK, and Action Medical Research. Shin'ichi Takeda has served on the scientific advisory boards of the Myology Institute in Paris and the National Center for Child Health and Development (Japan); has received travel funding/speaker honoraria from the Japanese Society of Neurology, the Pharmaceutical and Medical Device Regulatory Science Society of Japan, the International Collaboration Forum of Human Gene Therapy for Genetic Disease, the Japan Health Sciences Foundation, Jichi Medical University, MSD K.K., the Japan Society of Human Genetics, Chugai Pharmaceutical Co. Ltd., and Eisai Co. Ltd.; has served on the editorial boards of the <italic>Journal of Neuromuscular Diseases</italic>, the <italic>American Journal of Pathology</italic>, and <italic>Neuromuscular Disorders</italic>; holds patents for Antisense nucleic acid—sequence for exon 53 skip, Antisense nucleic acid—sequence for exon 44 skip, Antisense nucleic acid—sequence for exon 51 skip, and Antisense nucleic acid—sequence for block skip; has received publishing royalties from Springer; has been a consultant for Ono Pharmaceutical Co. Ltd., Chugai Pharmaceutical Co. Ltd., Taiho Pharma, Daiichisankyo Co. Ltd., and Takeda Pharmaceutical Co. Ltd.; and has received research support from Taiho Pharma, GlaxoSmithKline K.K., Nippon Shinyaku Co. Ltd., Takara Bio Inc., JCR Pharmaceuticals Co. Ltd., the Japan Agency for Medical Research and Development (AMED), AMED, the Ministry of Education, Sports, Science and Technology (MEXT), the National Center of Neurology and Psychiatry (NCNP), NCNP, the National Cerebral and Cardiovascular Center, and the National Center for Child Health and Development. Carolina Tesi Rocha has served on the scientific advisory boards of Sarepta and Marathon; and has been a consultant for Advance Medical. M.C. Walter has served on the scientific advisory boards of Novartis Pharma, the Steering Committee for a Prospective Observational Study in Sporadic Inclusion Body Myositis (sIBM), PTC Therapeutics, Roche Pharma, Grünenthal Pharma, and AveXis; has received travel funding/speaker honoraria from the EMG Seminar (Vienna), Novartis Pharma, and Biogen Pharma; has been a consultant for Guidepoint Global, GLG Consult, Olson Research, and Novartis; and has received research support from GlaxoSmithKline, Trophos AG (now Roche Pharma AG), Griofols, Novartis, the Federal Ministry of Education and Research (Germany), the Jain Foundation, Deutsche Gesellschaft für Muskelkranke, Association contre les Myopathies (AFM), and Friedrich-Baur-GmbH. Kate Bushby has served on the scientific advisory boards of Acceleron, AVI Biopharma, GlaxoSmithKline, Genzyme, Prosensa, PTC, Santhera, ELIXER, and BioMarin Pharmaceuticals; has served on the editorial board of <italic>Neuromuscular Disorders</italic>, has received publishing royalties from Cambridge University Press; has been an employee of Newcastle University; has been a consultant for Debiopharm, Lilly Pharmaceuticals, Summit Corporation, Insight Research Group, Galapagos SASU, Shire Human Genetics Therapies Inc., Amsterdam Molecular Therapeutics, European Neuromuscular Centre, Bristol-Meyers Squibb Company, and Solid Ventures LLC; has received research support from PTC, AVI, Pfizer Global Research and Development, Medical Research Council UK, The European Union, NIH, NHS England, the US Department of Defense, Muscular Dystrophy Campaign, Association Francaise contre les myopathies, INC Research, Duchenne Children's Trust, British Heart Foundation, Duchenne Parent Support, Wellcome Trust, Muscular Dystrophy Group of GB, and Parent Project Muscular Dystrophy. Go to <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000089">Neurology.org/ng</ext-link> for full disclosure forms.</p></sec><glossary><title>GLOSSARY</title><def-list><def-item><term id="G1">a-NSAA</term><def><p>adapted North Star Ambulatory Assessment</p></def></def-item><def-item><term id="G2">CK</term><def><p>creatine kinase</p></def></def-item><def-item><term id="G3">FVC</term><def><p>forced vital capacity</p></def></def-item><def-item><term id="G4">IB</term><def><p>immunoblot</p></def></def-item><def-item><term id="G5">IH</term><def><p>immunohistochemistry</p></def></def-item><def-item><term id="G6">LGMD</term><def><p>limb-girdle muscular dystrophy</p></def></def-item><def-item><term id="G7">LGMD2B</term><def><p>limb-girdle muscular dystrophy type 2B</p></def></def-item><def-item><term id="G8">ME</term><def><p>monocyte expression</p></def></def-item><def-item><term id="G9">MM</term><def><p>Miyoshi myopathy</p></def></def-item><def-item><term id="G10">MMT</term><def><p>Manual Muscle Testing</p></def></def-item><def-item><term id="G11">MRC</term><def><p>Medical Research Council</p></def></def-item><def-item><term id="G12">NSAA</term><def><p>North Star Ambulatory Assessment</p></def></def-item><def-item><term id="G13">OR</term><def><p>odds ratio</p></def></def-item><def-item><term id="G14">RFF</term><def><p>rise from floor</p></def></def-item><def-item><term id="G15">TUG</term><def><p>Timed Up and Go</p></def></def-item></def-list></glossary><ref-list><title>REFERENCES</title><ref id="R1"><label>1.</label><mixed-citation publication-type="journal"><person-group person-group-type="author"><name name-style="western"><surname>Bushby</surname><given-names>K</given-names></name>, <name name-style="western"><surname>Straub</surname><given-names>V</given-names></name></person-group><article-title>One gene, one or many diseases? 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