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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2u (lgmd 2u): Genetics This is caused by mutations in the ISPD gene on chromosome 7p21 It is early onset Clinical features Systemic features Other ISPD phenotypes Creatinine kinase (CK) Muscle biopsy Synonym Acronym

Genetics

  • This is caused by mutations in the ISPD gene on chromosome 7p21
  • It is early onset

Clinical features

Systemic features

Other ISPD phenotypes

Creatinine kinase (CK)

Muscle biopsy

Synonym

Acronym

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Tasca G, Moro F, Aiello C, et al. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013; 80:963-965. 
  3. Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013; 136:269-281.

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