Charcot Marie Tooth disease 2Y (CMT2Y)

Evidence-based neurology checklist on charcot marie tooth disease 2y (cmt2y): Genetics This is caused by mutations in the VCP gene on chromosome 9p It is late onset age Clinical features Investigations Acronym

Genetics

  • This is caused by mutations in the VCP gene on chromosome 9p
  • It is late onset age

Clinical features

Investigations

Acronym

References

  1. Gonzalez MA, Feely SM, Speziani F, et al. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain 2014; 137:2897-2902. 
  2. Jerath NU, Crockett CD, Moore SA, et al. Rare manifestation of a c.290 C>T, p.Gly97Glu VCP mutation. Case Rep Genet 2015; 2015:239167.

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