Limb girdle muscular dystrophy type 2Y (LGMD 2Y)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2y (lgmd 2y): Genetics This is caused by mutations in the TOR1AIP1 gene on chromosome 1q The gene encodes lamina-associated polypeptide 1B (LAP1B) The onset is in the first to second decades Clinical features Other…

Genetics

  • This is caused by mutations in the TOR1AIP1 gene on chromosome 1q
  • The gene encodes lamina-associated polypeptide 1B (LAP1B)
  • The onset is in the first to second decades

Clinical features

Other investigations

Muscle biopsy: features

Acronym

References

  1. Kayman-Kurekci G, Talim B, Korkusuz P, et al. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord 2014; 24:624-633.

Related checklists

Loading...