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

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

Limb girdle muscular dystrophy type 2R (LGMD 2R). This is caused by mutations in the DES (desmin) gene on chromosome 2q35.

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

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Other DES phenotypes

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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. 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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