Distal myopathy with anterior tibial onset

Definition:

Distal myopathy with anterior tibial onset is an autosomal recessive muscle dystrophy caused by a dysferlin mutation. The disease is rapidly progressive, leading to severe proximal weakness.

References:

[1]. J Liu, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998 Sep;20(1):31-6. [Content Brief]

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