Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy...

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Veröffentlicht in:	Neurology 2002-08, Vol.59 (4), p.620-623
Hauptverfasser:	VAN DER KOOI, A. J, BONNE, G, SCHWARTZ, K, BUSCH, H. F. M, DE VISSER, M, EYMARD, B, DUBOC, D, TALIM, B, VAN DER VALK, M, REISS, P, RICHARD, P, DEMAY, L, MERLINI, L
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Atrial Fibrillation - complications Atrial Fibrillation - genetics Biological and medical sciences Cardiomyopathies - complications Cardiomyopathies - diagnosis Cardiomyopathies - genetics Diseases of striated muscles. Neuromuscular diseases Electrocardiography Fatal Outcome Female Humans Lamin Type A Lamins Lipodystrophy - complications Lipodystrophy - diagnosis Lipodystrophy - genetics Medical sciences Muscular Dystrophies - complications Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Mutation, Missense - genetics Neurology Nuclear Proteins - genetics Tomography, X-Ray Computed
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Beschreibung
Zusammenfassung:	Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/WNL.59.4.620