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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-12-2014
Symbol CMT2S
Location 11q13.3
Name Charcot-Marie Tooth disease type 2 S
Corresponding gene IGHMBP2
Main clinical features
  • slowly progressive weakness, wasting and sensory loss, with an axonal neuropathy
  • axonal form, with a normal or slightly reduced nerve conduction velocity
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease