Charcot Marie Tooth disease 2O (CMT2O)

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

Charcot Marie Tooth disease 2O (CMT2O). This is caused by mutations in the DYNC1H1) gene on chromosome 14q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the DYNC1H1) gene on chromosome 14q
  • The onset is in childhood

Clinical features

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Acronym

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References

  1. Weedon MN, Hastings R, Caswell R, et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2011; 89:308-312.

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