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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2q (lgmd 2q): Genetics This is caused by mutations in the PLEC1 (Plectin isoform 1) gene on chromosome 8q It is early onset Clinical features Muscle biopsy: features Other investigations

Genetics

  • This is caused by mutations in the PLEC1 (Plectin isoform 1) gene on chromosome 8q
  • It is early onset

Clinical features

Muscle biopsy: features

Other investigations

References

  1. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  2. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12.
  3. Gundesli H, Talim B, Korkusuz P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010; 87:834-841.

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