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last update : 13-04-2016
Symbol CMT4F
Location 19q13.2
Name Charcot-Marie-Tooth disease, demyelinating, type 4 F
Corresponding gene PRX
Main clinical features
  • early onset but slow or no progression
  • clumsy gait, distal muscle weakness of the upper and lower extremities, areflexia, and sensory ataxia, peripheral neuropathy below the knees and pes cavus
  • sural nerve biopsy showed severe loss of myelinated fibers of all diameters, small onion bulb formations, and focally folded myelin
  • Genetic determination autosomal recessive
    Related entries including Dejerine-Sottas neuropathy
    Function/system disorder neurology
    Type disease
    Gene product
    Name periaxin
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function R1070X mutation resulting of a mutation hot spot