TOR1AIP1-related myopathy

MONDO:0100582

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.

Also known as: TOR1AIP1-related limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy type 2Y, muscular dystrophy autosomal recessive with rigid spine and distal joint contractures

5 clinical trials for this condition and its sub-types, 0 tagged with TOR1AIP1-related myopathy itself.

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↑ Congenital myopathy (75) ↑ TOR1AIP1-related nuclear envelopathy (1)

Sub-types of TOR1AIP1-related myopathy

Autosomal recessive limb-girdle muscular dystrophy type 2Y 1 trial

Including sub-types (5) Tagged with TOR1AIP1-related myopathy (0)

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