/TOR1AIP1-related myopathy

TOR1AIP1-related myopathy

Rare Disease

MONDO:0100582

Also Known As

TOR1AIP1-related limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy type 2Ymuscular dystrophy autosomal recessive with rigid spine and distal joint contractures

Definition

A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.