TOR1AIP1-related myopathy
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.
MONDO:0019952
congenital myopathy
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MONDO:0100604
TOR1AIP1-related nuclear envelopathy
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TOR1AIP1-related limb-girdle muscular dystrophy
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autosomal recessive limb-girdle muscular dystrophy type 2Y
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muscular dystrophy autosomal recessive with rigid spine and distal joint contractures
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