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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2x (lgmd 2x): Genetics This is caused by mutations in the POPDC1/BEVX gene on chromosome 6q The onset is in adulthood Clinical features Creatinine kinase (CK) Muscle biopsy: features Treatment Acronym

Genetics

  • This is caused by mutations in the POPDC1/BEVX gene on chromosome 6q
  • The onset is in adulthood

Clinical features

Creatinine kinase (CK)

Muscle biopsy: features

Treatment

Acronym

References

  1. Schindler RF, Scotton C, Zhang J, et al. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. J Clin Invest 2016; 126:239-253. 
  2. Schindler RF, Scotton C, French V, Ferlini A, Brand T. The popeye domain containing genes and their function in striated muscle. J Cardiovasc Dev Dis 2016; 3:22.

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