Article
A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.
Clinical genetics - 1 Aug 2017
Tsai P-C, Tsai Y-S, Soong B-W, Huang Y-H, Wu H-T, Chen Y-H, Lin K-P, Liao Y-C, Lee Y-C
Abstract excerpt
BACKGROUND: Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. MATERIALS AND METHODS: Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of the causal mutation were investigated in vitro. RESULTS: Exome sequencing of the two affected...
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