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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2g (lgmd 2g): 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…

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

Creatinine kinase (CK)

Muscle biopsy

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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