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

作者：Anneke J. van der Kooi, Gisèle Bonne, B. Eymard, Denis Duboc, Beril Talim, Marc van der Valk, Paul D. Reiss, Pascale Richard, Laurence Demay, Luciano Merlini, K Schwartz, H. F. M. Busch, Marianne de Visser · 发表于：Neurology · 年份：2002 · DOI：10.1212/wnl.59.4.620 · 被引用次数：140 · 研究领域：Nuclear Structure and Function、RNA Research and Splicing、RNA regulation and disease

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.