Myofibrillar myopathy 3

MONDO:0012215

A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

Also known as: LGMD1A, MYOT autosomal dominant distal myopathy, MYOT autosomal dominant limb-girdle muscular dystrophy, MYOT-related myofibrillar myopathy, autosomal dominant distal myopathy caused by mutation in MYOT, autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT, autosomal dominant limb-girdle muscular dystrophy type 1A, distal myotilinopathy

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