Charcot Marie Tooth disease 2Q (CMT2Q)

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

Charcot Marie Tooth disease 2Q (CMT2Q). This is caused by mutations in the DHTKD1 gene on chromosome 10p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the DHTKD1 gene on chromosome 10p
  • The onset age is 13-25 years

Clinical features

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Acronym

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References

  1. Xu WY, Gu MM, Sun LH, et al. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet 2012; 91:1088-1094.

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