{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T14:41:05Z","timestamp":1781707265357,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,3,23]],"date-time":"2016-03-23T00:00:00Z","timestamp":1458691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:p>Emery\u2013Dreifuss muscular dystrophy (<jats:styled-content style=\"fixed-case\">EDMD<\/jats:styled-content>) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in <jats:styled-content style=\"fixed-case\">FHL1<\/jats:styled-content> gene (p.<jats:styled-content style=\"fixed-case\">Cys255Ser<\/jats:styled-content>). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non\u2010dilated ventricles. Carriers had significant <jats:styled-content style=\"fixed-case\">QTc<\/jats:styled-content> prolongation. The proband presented with resuscitated cardiac arrest. There were two transplants. Pathological study of explanted heart showed fibrofatty replacement and scarring consistent with arrhythmogenic cardiomyopathy and prominent left ventricular trabeculations. Myopathic involvement was evident in all males. Females had no significant neuromuscular disease. Mutations in <jats:styled-content style=\"fixed-case\">FHL1<\/jats:styled-content> cause unclassifiable cardiomyopathy with coexisting <jats:styled-content style=\"fixed-case\">EDMD<\/jats:styled-content>. Prognosis is poor and systolic impairment and arrhythmias are frequent. Thrombopenia and raised creatine phosphokinase should raise suspicion of an <jats:styled-content style=\"fixed-case\">FHL<\/jats:styled-content>\u20101 disorder in X\u2010linked cardiomyopathy.<\/jats:p>","DOI":"10.1111\/cge.12760","type":"journal-article","created":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T08:56:34Z","timestamp":1455008194000},"page":"171-176","source":"Crossref","is-referenced-by-count":19,"title":["Unclassifiable arrhythmic cardiomyopathy associated with Emery\u2013Dreifuss caused by a mutation in <scp>FHL1<\/scp>"],"prefix":"10.1111","volume":"90","author":[{"given":"I.","family":"San Rom\u00e1n","sequence":"first","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Navarro","sequence":"additional","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Neurology Department University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Albert","sequence":"additional","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Polo","sequence":"additional","affiliation":[{"name":"Pathology Department University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Guardiola","sequence":"additional","affiliation":[{"name":"Pneumology Department University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Garc\u00eda\u2010Molina","sequence":"additional","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mu\u00f1oz\u2010Esparza","sequence":"additional","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M.","family":"L\u00f3pez\u2010Ayala","sequence":"additional","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Sabater\u2010Molina","sequence":"additional","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"},{"name":"Internal Medicine Department, University of Murcia  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. R.","family":"Gimeno","sequence":"additional","affiliation":[{"name":"Inherited Cardiac Disease Unit University Hospital Virgen de la Arrixaca  Murcia Spain"},{"name":"Internal Medicine Department, University of Murcia  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.03.001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1582-4934.2010.01176.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.06.327"},{"key":"e_1_2_7_5_1","unstructured":"http:\/\/www.ncbi.nlm.nih.gov\/clinvar\/"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1196"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurjhf\/hft013"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvv024"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0359-8"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvn092"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvn038"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2012.09.118"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12760","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12760","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:14:20Z","timestamp":1694326460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,23]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1111\/cge.12760"],"URL":"https:\/\/doi.org\/10.1111\/cge.12760","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,23]]}}}