Myofibrillar myopathy 3

Myofibrillar myopathy 3

Definition

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 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, LGMD1A, myofibrillar myopathy type 3, myopathy, myofibrillar, type 3, MYOT autosomal dominant distal myopathy, MYOT autosomal dominant limb-girdle muscular dystrophy, MYOT-related myofibrillar myopathy, myotilinopathy, spheroid body myopathy — per MONDO

Also identified as