{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T08:25:56Z","timestamp":1789374356205,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,3,15]],"date-time":"2005-03-15T00:00:00Z","timestamp":1110844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of the <jats:italic>LMNA<\/jats:italic> gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery\u2013Dreifuss muscular dystrophy and to limb\u2010girdle muscular dystrophy 1B (EDMD and LGMD1B). With one exception, all the reported EDMD and LGMD1B mutations are confined to the first 10 exons of the gene. We report four separate cases, with mutations in the same codon of <jats:italic>LMNA<\/jats:italic> exon 11, characterized by remarkable variability of clinical findings, in addition to features not previously reported. One patient had congenital weakness and died in early childhood. In two other patients, severe cardiac problems arose early and, in one of these, cardiac signs preceded by many years the onset of skeletal muscle weakness. The fourth case had a mild and late\u2010onset LGMD1B phenotype. Our cases further expand the clinical spectrum associated with mutations in the <jats:italic>LMNA<\/jats:italic> gene and provide new evidence of the role played by the C\u2010terminal domain of lamin A. Muscle Nerve, 2005<\/jats:p>","DOI":"10.1002\/mus.20293","type":"journal-article","created":{"date-parts":[[2005,3,15]],"date-time":"2005-03-15T20:16:33Z","timestamp":1110917793000},"page":"602-609","source":"Crossref","is-referenced-by-count":62,"title":["Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A\/C gene"],"prefix":"10.1002","volume":"31","author":[{"given":"E.","family":"Mercuri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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