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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2w (lgmd 2w): Genetics This is caused by mutations in the LIMS2/PINCH2 gene on chromosome 2q14 It is childhood onset Clinical features Creatinine kinase (CK) Muscle biopsy: features

Genetics

  • This is caused by mutations in the LIMS2/PINCH2 gene on chromosome 2q14
  • It is childhood onset

Clinical features

Creatinine kinase (CK)

Muscle biopsy: features

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Chardon JW, Smith AC, Woulfe J, et al. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet 2015; 88:558-564.

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