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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...
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