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

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

Limb girdle muscular dystrophy type 2W (LGMD 2W). This is caused by mutations in the LIMS2/PINCH2 gene on chromosome 2q14. It is childhood onset.

Genetics

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

Clinical features

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Creatinine kinase (CK)

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Muscle biopsy: features

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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. 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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