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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2r (lgmd 2r): Genetics This is caused by mutations in the DES (desmin) gene on chromosome 2q35 The onset is in the second or third decades Clinical features Other DES phenotypes Creatinine kinase (CK) Muscle biopsy: features

Genetics

  • This is caused by mutations in the DES (desmin) gene on chromosome 2q35
  • The onset is in the second or third decades

Clinical features

Other DES phenotypes

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. Cetin N, Balci-Hayta B, Gundesli H, et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet 2013; 50:437-443. 
  3. Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V. Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? Eur J Hum Genet 2016; 24:73-77. 
  4. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophies. Neurology 2003; 60:1230-1231.
  5. Guglieri M, Bushby K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India 2008; 56:271-280.
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