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

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

Limb girdle muscular dystrophy type 2Q (LGMD 2Q). This is caused by mutations in the PLEC1 (Plectin isoform 1) gene on chromosome 8q. It is early onset.

Genetics

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

Clinical features

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Muscle biopsy: features

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Other investigations

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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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