Friedrich-Baur-Institute, Department of Neurology, University of Munich, D-80336 Munich, Germany.
Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19.
Mutations in alpha-B crystallin gene (CRYAB) have been described to cause congenital cataracts, dilated cardiomyopathy and myofibrillar myopathy. For skeletal myopathy, only three different mutations have been reported within the last decade. Here we describe for the first time the missense mutation p.Gly154Ser to be associated with a late-onset distal vacuolar myopathy with protein aggregates without respiratory or cardiac dysfunction, and without significant cataracts. The mutation affects a residue in a highly preserved domain of alpha-B crystallin and has been identified earlier in patients with isolated cardiomyopathy.
CRYAB 基因中的突变已被描述为导致先天性白内障、扩张型心肌病和肌原纤维肌病。在过去十年中，仅报道了三种不同的突变与骨骼肌病有关。在这里，我们首次描述了错义突变 p.Gly154Ser 与一种迟发性远端空泡性肌病相关，该疾病伴有蛋白聚集但无呼吸或心脏功能障碍，且无明显白内障。该突变影响了α-B 晶状体蛋白高度保守结构域中的一个残基，早些时候已在孤立性心肌病患者中发现该突变。
