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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><bold>Clinical utility gene card for: Centronuclear and myotubular myopathies</bold>
</title>
<author><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name>
<affiliation><nlm:aff id="aff1"><institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Strasbourg,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H" last="Beggs">Alan H. Beggs</name>
<affiliation><nlm:aff id="aff3"><institution>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School</institution>
, Boston, MA,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name>
<affiliation><nlm:aff id="aff4"><institution>Department of Human Genetics, The University of Chicago</institution>
, Chicago, IL,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jungbluth, Heinz" sort="Jungbluth, Heinz" uniqKey="Jungbluth H" first="Heinz" last="Jungbluth">Heinz Jungbluth</name>
<affiliation><nlm:aff id="aff5"><institution>Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6"><institution>Clinical Neuroscience Division, IOP, King's College London</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kress, Wolfram" sort="Kress, Wolfram" uniqKey="Kress W" first="Wolfram" last="Kress">Wolfram Kress</name>
<affiliation><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Wuerzburg</institution>
, Wuerzburg,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name>
<affiliation><nlm:aff id="aff8"><institution>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="North, Kathryn" sort="North, Kathryn" uniqKey="North K" first="Kathryn" last="North">Kathryn North</name>
<affiliation><nlm:aff id="aff9"><institution>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Faculty of Medicine, University of Sydney</institution>
, Sydney, New South Wales,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B" last="Romero">Norma B. Romero</name>
<affiliation><nlm:aff id="aff10"><institution>Unit of Neuromuscular Morphology, Institute of Myology, UPMC University Paris 6 UM76, Inserm UMRS 974, CNRS UMR 7215, AP-HP, GHU Pitié-Salpêtrière</institution>
, Paris,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22617344</idno>
<idno type="pmc">3449068</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449068</idno>
<idno type="RBID">PMC:3449068</idno>
<idno type="doi">10.1038/ejhg.2012.91</idno>
<date when="2012">2012</date>
<idno type="wicri:Area/Pmc/Corpus">000014</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000014</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><bold>Clinical utility gene card for: Centronuclear and myotubular myopathies</bold>
</title>
<author><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name>
<affiliation><nlm:aff id="aff1"><institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Strasbourg,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H" last="Beggs">Alan H. Beggs</name>
<affiliation><nlm:aff id="aff3"><institution>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School</institution>
, Boston, MA,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name>
<affiliation><nlm:aff id="aff4"><institution>Department of Human Genetics, The University of Chicago</institution>
, Chicago, IL,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jungbluth, Heinz" sort="Jungbluth, Heinz" uniqKey="Jungbluth H" first="Heinz" last="Jungbluth">Heinz Jungbluth</name>
<affiliation><nlm:aff id="aff5"><institution>Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6"><institution>Clinical Neuroscience Division, IOP, King's College London</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kress, Wolfram" sort="Kress, Wolfram" uniqKey="Kress W" first="Wolfram" last="Kress">Wolfram Kress</name>
<affiliation><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Wuerzburg</institution>
, Wuerzburg,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name>
<affiliation><nlm:aff id="aff8"><institution>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="North, Kathryn" sort="North, Kathryn" uniqKey="North K" first="Kathryn" last="North">Kathryn North</name>
<affiliation><nlm:aff id="aff9"><institution>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Faculty of Medicine, University of Sydney</institution>
, Sydney, New South Wales,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B" last="Romero">Norma B. Romero</name>
<affiliation><nlm:aff id="aff10"><institution>Unit of Neuromuscular Morphology, Institute of Myology, UPMC University Paris 6 UM76, Inserm UMRS 974, CNRS UMR 7215, AP-HP, GHU Pitié-Salpêtrière</institution>
, Paris,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
</TEI>
<pmc article-type="other"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22617344</article-id>
<article-id pub-id-type="pmc">3449068</article-id>
<article-id pub-id-type="pii">ejhg201291</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2012.91</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Clinical Utility Gene Card</subject>
</subj-group>
</article-categories>
<title-group><article-title><bold>Clinical utility gene card for: Centronuclear and myotubular myopathies</bold>
</article-title>
<alt-title alt-title-type="running">Clinical Utility Gene Card</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Biancalana</surname>
<given-names>Valérie</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beggs</surname>
<given-names>Alan H</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Das</surname>
<given-names>Soma</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jungbluth</surname>
<given-names>Heinz</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kress</surname>
<given-names>Wolfram</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nishino</surname>
<given-names>Ichizo</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>North</surname>
<given-names>Kathryn</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Romero</surname>
<given-names>Norma B</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Laporte</surname>
<given-names>Jocelyn</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Strasbourg,<country>France</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School</institution>
, Boston, MA,<country>USA</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Department of Human Genetics, The University of Chicago</institution>
, Chicago, IL,<country>USA</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital</institution>
, London,<country>UK</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>Clinical Neuroscience Division, IOP, King's College London</institution>
, London,<country>UK</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Institute of Human Genetics, University of Wuerzburg</institution>
, Wuerzburg,<country>Germany</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)</institution>
, Tokyo,<country>Japan</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Faculty of Medicine, University of Sydney</institution>
, Sydney, New South Wales,<country>Australia</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Unit of Neuromuscular Morphology, Institute of Myology, UPMC University Paris 6 UM76, Inserm UMRS 974, CNRS UMR 7215, AP-HP, GHU Pitié-Salpêtrière</institution>
, Paris,<country>France</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Nouvel Hôpital Civil, 1 place de l' Hôpital, Strasbourg 67091, <country>France</country>
. Tel: +33 369 55 07 77; Fax: +33 369 55 18 94; E-mail: <email>valerie.biancalana@chru-strasbourg.fr</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>10</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>23</day>
<month>05</month>
<year>2012</year>
</pub-date>
<volume>20</volume>
<issue>10</issue>
<fpage></fpage>
<lpage></lpage>
<permissions><copyright-statement>Copyright © 2012 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
</permissions>
</article-meta>
</front>
</pmc>
</record>
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