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

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

Limb girdle muscular dystrophy type 2V (LGMD 2V). This is caused by mutations in the GAA gene on chromosome 17q25. Fully referenced neurology checklist.

Genetics

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

Differential diagnosis

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Acronym

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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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