has material basis in germline mutation in TOR1AIP1 myopathy congenital myopathy TOR1AIP1-related myopathy https://github.com/monarch-initiative/mondo/issues/8593 https://github.com/monarch-initiative/mondo/issues/8784 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. autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0100582 GARD:0027277 TOR1AIP1-related limb-girdle muscular dystrophy muscular dystrophy autosomal recessive with rigid spine and distal joint contractures TOR1AIP1-related nuclear envelopathy