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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-02-2013
Symbol CMT4C
Location 5q32
Name Charcot-Marie-Tooth disease, type 4C
Other name(s) Charcot-Marie-Tooth neuropathy, motor and sensory, type 4C
Corresponding gene SH3TC2
Main clinical features
  • demyelinating neuropathy with early spine deformities
  • onset in childhood or adolescence, precocious and rapidly progressive scoliosis and pes cavus, a slow progession, decreased nerve conduction velocity, thin myelin sheaths and onion bulb formations
  • at the biopsy, giant axons
  • delayed age of walking, muscular atrophy, areflexia, sensory impairment, foot deformities (pes cavus), and reduced motor and sensory nerve conduction velocities (Arnaud 2009)
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name SH3 domain and tetratricopeptide repeats 2