伴有脂肪营养不良、心脏异常和肌肉萎缩症的核纤层蛋白A/C突变。
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
作者信息
van der Kooi A J, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch H F M, de Visser M
机构信息
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
出版信息
Neurology. 2002 Aug 27;59(4):620-3. doi: 10.1212/wnl.59.4.620.
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.
在埃默里-德赖富斯肌营养不良症、伴有心脏传导障碍的肢带型肌营养不良症、伴有传导系统疾病的扩张型心肌病以及家族性部分脂肪营养不良症中发现了核纤层蛋白A/C基因的突变。本文描述了伴有脂肪营养不良并合并心脏和/或骨骼肌异常的核纤层蛋白A/C基因突变病例。
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