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

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

Limb girdle muscular dystrophy type 2X (LGMD 2X). This is caused by mutations in the POPDC1/BEVX gene on chromosome 6q. The onset is in adulthood.

Genetics

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

Clinical features

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Creatinine kinase (CK)

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Muscle biopsy: features

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Treatment

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Acronym

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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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