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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-07-2017
Symbol CMT2Y
Location 22q12.2
Name Charcot-Marie-Tooth disease, type 2Y
Corresponding gene VCP
Main clinical features
  • peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss; most patients have involvement of both the lower and upper limbs
  • age at onset and the severity of the disorder are highly variable
  • electrophysiologic studies were consistent with an axonal sensorimotor neuropathy with variably decreased amplitudes and prolonged latencies
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease