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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel mutation expands the genetic and clinical spectrum of <italic>MYH7</italic>-related myopathies</title><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation><nlm:aff id="A1">INMR, The Children’s Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Amburgey, Kimberly" sort="Amburgey, Kimberly" uniqKey="Amburgey K" first="Kimberly" last="Amburgey">Kimberly Amburgey</name><affiliation><nlm:aff id="A2">Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Teener, James" sort="Teener, James" uniqKey="Teener J" first="James" last="Teener">James Teener</name><affiliation><nlm:aff id="A3">Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Camelo Piragua, Sandra" sort="Camelo Piragua, Sandra" uniqKey="Camelo Piragua S" first="Sandra" last="Camelo-Piragua">Sandra Camelo-Piragua</name><affiliation><nlm:aff id="A4">Department of Neuropathology, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Kesari, Akanchha" sort="Kesari, Akanchha" uniqKey="Kesari A" first="Akanchha" last="Kesari">Akanchha Kesari</name><affiliation><nlm:aff id="A5">Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Punetha, Jaya" sort="Punetha, Jaya" uniqKey="Punetha J" first="Jaya" last="Punetha">Jaya Punetha</name><affiliation><nlm:aff id="A5">Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Waddell, Leigh B" sort="Waddell, Leigh B" uniqKey="Waddell L" first="Leigh B." last="Waddell">Leigh B. Waddell</name><affiliation><nlm:aff id="A1">INMR, The Children’s Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Davis, Mark" sort="Davis, Mark" uniqKey="Davis M" first="Mark" last="Davis">Mark Davis</name><affiliation><nlm:aff id="A6">Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia</nlm:aff></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="A6">Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia</nlm:aff></affiliation></author><author><name sortKey="Monnier, Nicole" sort="Monnier, Nicole" uniqKey="Monnier N" first="Nicole" last="Monnier">Nicole Monnier</name><affiliation><nlm:aff id="A7">Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire Grenoble/Institut, Nationale de la Santé et de la Recherche Médicale, U386 Grenoble, France</nlm:aff></affiliation></author><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation><nlm:aff id="A1">INMR, The Children’s Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Hoffman, Eric P" sort="Hoffman, Eric P" uniqKey="Hoffman E" first="Eric P." last="Hoffman">Eric P. Hoffman</name><affiliation><nlm:aff id="A5">Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name><affiliation><nlm:aff id="A2">Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23478172</idno><idno type="pmc">4103162</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103162</idno><idno type="RBID">PMC:4103162</idno><idno type="doi">10.1016/j.nmd.2013.02.009</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002080</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002080</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A novel mutation expands the genetic and clinical spectrum of <italic>MYH7</italic>-related myopathies</title><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation><nlm:aff id="A1">INMR, The Children’s Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Amburgey, Kimberly" sort="Amburgey, Kimberly" uniqKey="Amburgey K" first="Kimberly" last="Amburgey">Kimberly Amburgey</name><affiliation><nlm:aff id="A2">Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Teener, James" sort="Teener, James" uniqKey="Teener J" first="James" last="Teener">James Teener</name><affiliation><nlm:aff id="A3">Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Camelo Piragua, Sandra" sort="Camelo Piragua, Sandra" uniqKey="Camelo Piragua S" first="Sandra" last="Camelo-Piragua">Sandra Camelo-Piragua</name><affiliation><nlm:aff id="A4">Department of Neuropathology, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Kesari, Akanchha" sort="Kesari, Akanchha" uniqKey="Kesari A" first="Akanchha" last="Kesari">Akanchha Kesari</name><affiliation><nlm:aff id="A5">Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Punetha, Jaya" sort="Punetha, Jaya" uniqKey="Punetha J" first="Jaya" last="Punetha">Jaya Punetha</name><affiliation><nlm:aff id="A5">Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Waddell, Leigh B" sort="Waddell, Leigh B" uniqKey="Waddell L" first="Leigh B." last="Waddell">Leigh B. Waddell</name><affiliation><nlm:aff id="A1">INMR, The Children’s Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Davis, Mark" sort="Davis, Mark" uniqKey="Davis M" first="Mark" last="Davis">Mark Davis</name><affiliation><nlm:aff id="A6">Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia</nlm:aff></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="A6">Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia</nlm:aff></affiliation></author><author><name sortKey="Monnier, Nicole" sort="Monnier, Nicole" uniqKey="Monnier N" first="Nicole" last="Monnier">Nicole Monnier</name><affiliation><nlm:aff id="A7">Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire Grenoble/Institut, Nationale de la Santé et de la Recherche Médicale, U386 Grenoble, France</nlm:aff></affiliation></author><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation><nlm:aff id="A1">INMR, The Children’s Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Hoffman, Eric P" sort="Hoffman, Eric P" uniqKey="Hoffman E" first="Eric P." last="Hoffman">Eric P. Hoffman</name><affiliation><nlm:aff id="A5">Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name><affiliation><nlm:aff id="A2">Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Neuromuscular disorders : NMD</title><idno type="ISSN">0960-8966</idno><idno type="eISSN">1873-2364</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1"><italic>MYH7</italic> mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel <italic>MYH7</italic> mutation (p.Leu1597Arg) that arose <italic>de novo</italic> in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with <italic>MYH7</italic> mutations, and provide further evidence that <italic>MYH7</italic> is likely responsible for a greater proportion of congenital myopathies than currently appreciated.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9111470</journal-id><journal-id journal-id-type="pubmed-jr-id">2215</journal-id><journal-id journal-id-type="nlm-ta">Neuromuscul Disord</journal-id><journal-id journal-id-type="iso-abbrev">Neuromuscul. Disord.</journal-id><journal-title-group><journal-title>Neuromuscular disorders : NMD</journal-title></journal-title-group><issn pub-type="ppub">0960-8966</issn><issn pub-type="epub">1873-2364</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23478172</article-id><article-id pub-id-type="pmc">4103162</article-id><article-id pub-id-type="doi">10.1016/j.nmd.2013.02.009</article-id><article-id pub-id-type="manuscript">NIHMS594463</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A novel mutation expands the genetic and clinical spectrum of <italic>MYH7</italic>-related myopathies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Nigel F.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Amburgey</surname><given-names>Kimberly</given-names></name><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Teener</surname><given-names>James</given-names></name><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Camelo-Piragua</surname><given-names>Sandra</given-names></name><xref ref-type="aff" rid="A4">d</xref></contrib><contrib contrib-type="author"><name><surname>Kesari</surname><given-names>Akanchha</given-names></name><xref ref-type="aff" rid="A5">e</xref></contrib><contrib contrib-type="author"><name><surname>Punetha</surname><given-names>Jaya</given-names></name><xref ref-type="aff" rid="A5">e</xref></contrib><contrib contrib-type="author"><name><surname>Waddell</surname><given-names>Leigh B.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Davis</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>Monnier</surname><given-names>Nicole</given-names></name><xref ref-type="aff" rid="A7">g</xref></contrib><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn N.</given-names></name><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Hoffman</surname><given-names>Eric P.</given-names></name><xref ref-type="aff" rid="A5">e</xref></contrib><contrib contrib-type="author"><name><surname>Dowling</surname><given-names>James J.</given-names></name><xref ref-type="aff" rid="A2">b</xref><xref ref-type="aff" rid="A3">c</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib></contrib-group><aff id="A1"><label>a</label>INMR, The Children’s Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</aff><aff id="A2"><label>b</label>Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor, MI, USA</aff><aff id="A3"><label>c</label>Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI, USA</aff><aff id="A4"><label>d</label>Department of Neuropathology, University of Michigan Medical Center, Ann Arbor, MI, USA</aff><aff id="A5"><label>e</label>Research Center for Genetic Medicine, Children’s National Medical Center, Washington, DC, USA</aff><aff id="A6"><label>f</label>Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia</aff><aff id="A7"><label>g</label>Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire Grenoble/Institut, Nationale de la Santé et de la Recherche Médicale, U386 Grenoble, France</aff><author-notes><corresp id="FN1"><label>*</label>Corresponding author. Address: 109 Zina Pitcher Place, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA. Tel.: +1 734 764 7022; fax: +1 734 763 7275. <email>jamedowl@med.umich.edu</email> (J.J. Dowling)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>6</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>09</day><month>3</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>18</day><month>7</month><year>2014</year></pub-date><volume>23</volume><issue>5</issue><fpage>432</fpage><lpage>436</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.nmd.2013.02.009</pmc-comment>
<permissions><copyright-statement>© 2013 Elsevier B.V. All rights reserved.</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p id="P1"><italic>MYH7</italic> mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel <italic>MYH7</italic> mutation (p.Leu1597Arg) that arose <italic>de novo</italic> in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with <italic>MYH7</italic> mutations, and provide further evidence that <italic>MYH7</italic> is likely responsible for a greater proportion of congenital myopathies than currently appreciated.</p></abstract><kwd-group><kwd>Congenital myopathies</kwd><kwd>MYH7</kwd><kwd>Laing distal myopathy</kwd><kwd>Axial myopathy</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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