Charcot Marie Tooth disease 2V (CMT2V)

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

Charcot Marie Tooth disease 2V (CMT2V). This is caused by mutations in the NAGLU gene on chromosome 17q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the NAGLU gene on chromosome 17q
  • It is late onset age

Clinical features

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Acronym

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References

  1. Tétreault M, Gonzalez M, Dicaire MJ, et al. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 2015; 138:1477-1483.

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