{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T07:11:20Z","timestamp":1781075480518,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,24]],"date-time":"2015-02-24T00:00:00Z","timestamp":1424736000000},"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":[[2015,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mutations in the lamin A\/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery\u2010Dreifuss muscular dystrophy (EDMD), limb\u2010girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the <jats:italic>LMNA<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified heterozygous mutations (c.80C&gt; T; pT27I) in the <jats:italic>LMNA<\/jats:italic> gene in 3 family members who had the LGMD phenotype with onset in their early thirties and cardiac conduction defects or dilated cardiomyopathy. Interestingly, muscle biopsies showed changes consistent with fiber type disproportion (FTD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Fiber type disproportion has been reported only anecdotally in muscle biopsies of patients with <jats:italic>LMNA<\/jats:italic> mutations. Our report further supports this association and suggests inclusion of molecular testing for <jats:italic>LMNA<\/jats:italic> in the differential diagnosis of myopathies with FTD due to the risk for life threatening events. <jats:italic>Muscle Nerve<\/jats:italic> 51: 604\u2013608, 2015<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.24467","type":"journal-article","created":{"date-parts":[[2014,9,26]],"date-time":"2014-09-26T07:59:00Z","timestamp":1411718340000},"page":"604-608","source":"Crossref","is-referenced-by-count":7,"title":["Muscle fiber type disproportion (FTD) in a family with mutations in the <i>LMNA<\/i> gene"],"prefix":"10.1002","volume":"51","author":[{"given":"Lucia","family":"Ruggiero","sequence":"first","affiliation":[{"name":"Department of Neurosciences Reproductive and Odontostomatological Sciences University Federico II of Naples Via Sergio Pansini 5 80131 Naples 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Odontostomatological Sciences University Federico II of Naples Via Sergio Pansini 5 80131 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Dubbioso","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Reproductive and Odontostomatological Sciences University Federico II of Naples Via Sergio Pansini 5 80131 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floriana","family":"Vitale","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Reproductive and Odontostomatological Sciences University Federico II of Naples Via Sergio Pansini 5 80131 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia","family":"Storti","sequence":"additional","affiliation":[{"name":"Neuromuscular and Molecular Medicine Unit Department of Developmental Neuroscience IRCCS Stella Maris Pisa 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