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References OMIM Gene GeneReviews HGMD HGNC
last update : 28/10/06
Symbol CMT1E
Location 17p11.2
Name Charcot-Marie-Tooth disease, demyelinating, type 1E
Corresponding gene PMP22
Main clinical features
  • onset occurred in childhood with weakness of peroneal muscles, followed by atrophy, pes calcaneovarus, steppage gait, poor balance, and diminished sensation in the legs, pes cavus, hammertoes, and absent deep tendon reflexes, sensorineural hearing loss, which became apparent in the second decade, was severe to profound
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease