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References OMIM Gene GeneReviews HGMD HGNC
last update : 17/07/2006
Symbol CMT2J
Location 1q22
Name Charcot-Marie-Tooth neuropathy, type 2J
Other name(s)
  • Charcot-Marie-Tooth neuropathy, type 2J . Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities
  • Corresponding gene MPZ
    Main clinical features
  • characterized by relatively late onset (37 to 61 years), marked sensory impairment, and distal muscle atrophy and weakness, clusters of remyelinating axons in the sural nerve biopsy
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease