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

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

Limb girdle muscular dystrophy type 2G (LGMD 2G). This is a teletinopathy. Fully referenced neurology checklist.

Genetics

  • This is a teletinopathy
  • It is caused by mutations in the TCAP (telethonin) gene on chromosome 17q
  • It manifests in Brazilian and Chinese families
  • The onset is in adolescence: between 9-15 years

Clinical features

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Creatinine kinase (CK)

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Muscle biopsy

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References

  1. Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000; 24:163-166.
  2. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  3. Francis A, Sunitha B, Vinodh K, et al. Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. PLoS One 2014; 9:e102763. 
  4. Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 1997; 61:151-159.

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