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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-01-2015
Symbol CMT2O
Location 14q32.31
Name Charcot-Marie-Tooth disease, axonal, type 20
Corresponding gene DYNC1H1
Main clinical features
  • axonal peripheral neuropathy, with in childhood delayed motor milestones and/or an abnormal gait and difficulty running, slowly progressive distal lower limb weakness and wasting with pes cavus deformity
  • nerve conduction studies were within the normal range, and sural nerve biopsies demonstrated changes consistent with axonal degeneration
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease