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

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Limb girdle muscular dystrophy type 2Y (LGMD 2Y). This is caused by mutations in the TOR1AIP1 gene on chromosome 1q. Fully referenced neurology checklist.

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

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Other investigations

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Muscle biopsy: features

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Acronym

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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.

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