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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-05-2015
Symbol CMT2U
Location 12q14.1
Name Charcot-Marie-Tooth disease, axonal, type 2U
Corresponding gene MARS
Main clinical features
  • late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs, slowly progressive
  • sural nerve biopsy and electrophysiologic studies were consistent with an axonal neuropathy
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease