期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 4, 页码 255-259出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.01.012
关键词
Myofibrillar myopathy; Alpha-B Crystallinopathy; Vacuolar myopathy; Distal myopathy; Filamentous inclusions; Protein aggregates
资金
- German Federal Ministry of Education and Research (BMBF, Bonn, Germany) [01GM0887]
- Grifols Deutschland GmbH (Langen, Germany)
- Medical Research Council [G0601943B] Funding Source: researchfish
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. (C) 2010 Elsevier B.V. All rights reserved.
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