{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:00:52Z","timestamp":1789894852068,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,3,20]],"date-time":"2017-03-20T00:00:00Z","timestamp":1489968000000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003768","name":"Universit\u00e9 de Strasbourg","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003768","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:p>\n                    Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in\n                    <jats:italic>MYPN<\/jats:italic>\n                    in 2 unrelated families with a slowly progressive congenital cap myopathy.\n                    <jats:italic>MYPN<\/jats:italic>\n                    encodes the Z\u2010line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full\u2010length protein expression. Myopalladin signals accumulate in the caps together with alpha\u2010actinin. Dominant\n                    <jats:italic>MYPN<\/jats:italic>\n                    mutations were previously reported in cardiomyopathies. Our data uncover that mutations in\n                    <jats:italic>MYPN<\/jats:italic>\n                    cause either a cardiac or a congenital skeletal muscle disorder through different modes of inheritance. Ann Neurol 2017;81:467\u2013473\n                  <\/jats:p>","DOI":"10.1002\/ana.24900","type":"journal-article","created":{"date-parts":[[2017,2,21]],"date-time":"2017-02-21T11:17:07Z","timestamp":1487675827000},"page":"467-473","source":"Crossref","is-referenced-by-count":32,"title":["Recessive\n                    <scp>\n                      <i>MYPN<\/i>\n                    <\/scp>\n                    mutations cause cap myopathy with occasional nemaline rods"],"prefix":"10.1002","volume":"81","author":[{"given":"Xavi\u00e8re","family":"Lornage","sequence":"first","affiliation":[{"name":"Institute of Genetics and Molecular and Cellular Biology Illkirch France"},{"name":"National Institute of Health and Medical Research Illkirch France"},{"name":"National Center for Scientific Research Illkirch France"},{"name":"Strasbourg Federation of Translational Medicine University of Strasbourg Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Unit of Neuromuscular Morphology, Institute of Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Reference Center for Neuromuscular Pathology Paris\u2010East, Institute of Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, Public Hospital Network of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrystel","family":"Ch\u00e9raud","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Molecular and Cellular Biology Illkirch France"},{"name":"National Institute of Health and Medical Research Illkirch France"},{"name":"National Center for Scientific Research Illkirch France"},{"name":"Strasbourg Federation of Translational Medicine University of Strasbourg Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rapha\u00ebl","family":"Schneider","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Molecular and Cellular Biology Illkirch France"},{"name":"National Institute of Health and Medical Research Illkirch France"},{"name":"National Center for Scientific Research Illkirch France"},{"name":"Strasbourg Federation of Translational Medicine University of Strasbourg Illkirch France"},{"name":"Department of Computer Science, ICube National Center for Scientific Research Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Biancalana","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Molecular and Cellular Biology Illkirch France"},{"name":"National Institute of Health and Medical Research Illkirch France"},{"name":"National Center for Scientific Research Illkirch France"},{"name":"Strasbourg Federation of Translational Medicine University of Strasbourg Illkirch France"},{"name":"Diagnostic Genetic Laboratory, New Civil Hospital Regional University Hospital Center Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marie","family":"Cuisset","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Reference Center for Neuromuscular Diseases, Roger\u2010Salengro Hospital Regional University Hospital Center Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Garibaldi","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular Morphology, Institute of Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Unit of Neuromuscular Diseases, Department of Neurology, Mental Health, and Sensory Organs, Faculty of Medicine and Psychology Sapienza University of Rome Rome Italy"},{"name":"Neuromuscular Diseases Centre, Department of Clinical Neurosciences University Hospital of Nice Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[{"name":"Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Reference Center for Neuromuscular Pathology Paris\u2010East, Institute of Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, Public Hospital Network of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Fardeau","sequence":"additional","affiliation":[{"name":"Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Unit of Neuromuscular Morphology, Institute of Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Reference Center for Neuromuscular Pathology Paris\u2010East, Institute of Myology, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, Public Hospital Network of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Boland","sequence":"additional","affiliation":[{"name":"National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[{"name":"National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies Evry 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