Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

Abstract excerpt

Dysferlin is a large sarcolemmal protein implicated in the repair of surface membrane tears in muscle cells. Mutations in dysferlin result in limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Using a cDNA based approach we identified eight new pathogenic dysferlin alleles. To better understand how missense mutations could lead to reduced or absent dysferlin expression levels, we mapped missense...

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