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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2p (lgmd 2p): Genetics This is a dystroglycanopathy It is caused by mutations in the DAG1 (dystroglycan) gene It is early onset Clinical features Investigations Synonym

Genetics

  • This is a dystroglycanopathy
  • It is caused by mutations in the DAG1 (dystroglycan) gene
  • It is early onset

Clinical features

Investigations

Synonym

References

  1. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  2. Dinçer P, Balci B, Yuva Y, et al. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. Neuromuscul Disord 2003; 13:771-778.
  3. Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 2011; 364:939-946. 
  4. Dong M, Noguchi S, Endo Y, et al. DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan. Neurology 2015; 84:273-279. 

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