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• W1963772046 abstract "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." @default.
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• W1963772046 date "2010-04-01" @default.
• W1963772046 modified "2023-10-18" @default.
• W1963772046 title "The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy" @default.
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• W1963772046 doi "https://doi.org/10.1016/j.nmd.2010.01.012" @default.
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