TOR1AIP1-related myopathy

rare

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.

Identifiers: MONDO:0100582
Part of: TOR1AIP1-related nuclear envelopathy Congenital myopathy Hereditary skeletal muscle disorder

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Autosomal recessive limb-girdle muscular dystrophy type 2Y	MONDO:0014900

Rare disease

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