{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T03:39:54Z","timestamp":1768880394232,"version":"3.49.0"},"reference-count":3,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Mutations in the lamin A\/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. We describe a case illustrating varied manifestations of a LMNA mutation and the implications for diagnosis and management. We turn to several family studies that describe considerable phenotypic variation arising from LMNA mutations. The discussion focuses on educating the reader in recognition of potential presentations of LMNA mutations.<\/jats:p>","DOI":"10.1136\/bcr-2012-007574","type":"journal-article","created":{"date-parts":[[2013,1,18]],"date-time":"2013-01-18T01:53:20Z","timestamp":1358474000000},"page":"bcr2012007574","source":"Crossref","is-referenced-by-count":2,"title":["Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy"],"prefix":"10.1136","volume":"2013","author":[{"given":"Hugh P","family":"Sims-Williams","sequence":"first","affiliation":[{"name":"Department of Neurology, University Hospital of North Staffordshire, Stoke on Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen J","family":"Nye","sequence":"additional","affiliation":[{"name":"Department of Medicine, Royal Berkshire Hospital, Reading, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul R","family":"Walker","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Southmead Hospital, Bristol, Avon, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,1,17]]},"reference":[{"key":"2025082706575604000_2013.jan16_1.bcr2012007574.1","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0b013e32832a11c6"},{"key":"2025082706575604000_2013.jan16_1.bcr2012007574.2","doi-asserted-by":"publisher","DOI":"10.1007\/s10840-007-9133-x"},{"key":"2025082706575604000_2013.jan16_1.bcr2012007574.3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ejheart.2005.08.007","article-title":"Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A\/C gene mutation: a phenotypic study","volume":"3","author":"Charniot","year":"2006","journal-title":"Eur J Heart Failure"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007574","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T13:58:04Z","timestamp":1756303084000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007574"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,17]]},"references-count":3,"alternative-id":["10.1136\/bcr-2012-007574"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007574","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,17]]}}}