{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:47:39Z","timestamp":1790254059144,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,1,20]],"date-time":"2015-01-20T00:00:00Z","timestamp":1421712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1002147"],"award-info":[{"award-number":["APP1002147"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1031893"],"award-info":[{"award-number":["APP1031893"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1022707"],"award-info":[{"award-number":["APP1022707"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:p>An <jats:italic><jats:styled-content style=\"fixed-case\">MYH2<\/jats:styled-content><\/jats:italic> mutation p.(<jats:styled-content style=\"fixed-case\">Glu706Lys<\/jats:styled-content>) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(<jats:styled-content style=\"fixed-case\">Leu1870Pro<\/jats:styled-content>) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, <jats:italic>de novo <jats:styled-content style=\"fixed-case\">MYH2<\/jats:styled-content><\/jats:italic> mutation c.<jats:styled-content style=\"fixed-case\">5630T<\/jats:styled-content>&gt;C p.(<jats:styled-content style=\"fixed-case\">Leu1877Pro<\/jats:styled-content>). This expands the phenotype of dominant <jats:italic><jats:styled-content style=\"fixed-case\">MYH2<\/jats:styled-content><\/jats:italic> myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.<\/jats:p>","DOI":"10.1111\/cge.12552","type":"journal-article","created":{"date-parts":[[2014,12,22]],"date-time":"2014-12-22T07:30:36Z","timestamp":1419233436000},"page":"573-578","source":"Crossref","is-referenced-by-count":19,"title":["Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel <i>de novo<\/i> p.(<scp>Leu1877Pro<\/scp>) mutation in <i><scp>MYH2<\/scp><\/i>"],"prefix":"10.1111","volume":"88","author":[{"given":"M.","family":"Cabrera\u2010Serrano","sequence":"first","affiliation":[{"name":"Centre for Medical Research, University of Western Australia Harry Perkins Institute of Medical Research  Perth Western Australia Australia"},{"name":"Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.A.","family":"Fabian","sequence":"additional","affiliation":[{"name":"Section of Neuropathology, Department of Anatomical Pathology Royal Perth Hospital  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Boutilier","sequence":"additional","affiliation":[{"name":"Centre for Medical Research, University of Western Australia Harry Perkins Institute of Medical Research  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Wise","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics Pathwest Laboratory Medicine WA  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Faiz","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics Pathwest Laboratory Medicine WA  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.J.","family":"Lamont","sequence":"additional","affiliation":[{"name":"Neurogenetic Unit, Department of Neurology Royal Perth Hospital  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.G.","family":"Laing","sequence":"additional","affiliation":[{"name":"Centre for Medical Research, University of Western Australia Harry Perkins Institute of Medical Research  Perth Western Australia 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