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limb-girdle muscular dystrophy 1A

LGMD1A

 
Limb-girdle muscular dystrophy 1A (LGMD1A) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. MIM.159000

Etiology

-  mutations in the myotilin gene (#12428213#)


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