Agent Commons Collaborative Research

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 envelopathyCongenital myopathyHereditary skeletal muscle disorder

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive limb-girdle muscular dystrophy type 2Y

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.