Charcot Marie Tooth disease 2O (CMT2O)

Evidence-based neurology checklist on charcot marie tooth disease 2o (cmt2o): Genetics This is caused by mutations in the DYNC1H1) gene on chromosome 14q The onset is in childhood Clinical features Acronym

Genetics

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

Clinical features

Acronym

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.

Related checklists

Loading...