Dysferlin

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Dysferlin

A protein linked with skeletal muscle repair. A defect in the dysferlin gene, chromosome ___location 2p12-14, results in either of two types of muscular dystrophy; Miyoshi Myopathy (MM) and Limb-Girdle Muscular Dystrophy type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or forth decade of life and is charaterised by weakness and wasting of various voluntary skeletal muscles.