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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2v (lgmd 2v): Genetics This is caused by mutations in the GAA gene on chromosome 17q25 The mutations are mild Differential diagnosis Acronym

Genetics

  • This is caused by mutations in the GAA gene on chromosome 17q25
  • The mutations are mild

Differential diagnosis

Acronym

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Preisler N, Lukacs Z, Vinge L, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab 2013; 110:287-289. 

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