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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-10-2016
Symbol CMT2T
Location 3q25.2
Name Charcot-Marie-Tooth disease, axonal, type 2T
Corresponding gene MME
Main clinical features
  • slowly progressive, sensorimotor peripheral neuropathy with onset in middle age
  • slowly progressive weakness and atrophy of the distal lower limb muscles, resulting in gait disturbance, although none were wheelchair-bound; also had distal sensory impairment and hyporeflexia
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease