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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2013
Symbol CMT2Q
Location 10p14
Name Charcot-Marie-Tooth disease, axonal, type 2Q
Corresponding gene DHTKD1
Main clinical features
  • symmetrical muscle wasting and a predominating weakness of the distal parts of the lower limbs, decreased or absent deep-tendon reflexes, and mild to moderate deep sensory impairment
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease