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GENATLAS PHENOTYPE
last update : 05/09/2008
Symbol CMT1B
Location 1q22
Name Charcot-Marie-Tooth disease, demyelating, type 1B
Other name(s)
  • Charcot-Marie-Tooth neuropathy 2
  • hereditary motor and sensory neuropathy I
  • peroneal muscular atrophy
    • Corresponding gene MPZ
    related resource Antithrombin Mutation Database
    Other symbol(s) CMT2, CMT2I, HMSN1B, HMSN1
    Main clinical features
  • hypertrophic form, demyelinating, characterized by distal muscle weakness and amyotrophy, sensory loss, decreased or absent tendon reflexes, with decreased nerve conduction velocity
    • Genetic determination autosomal dominant
    Related entries including Dejerine-Sottas syndrome, neuropathy with focally folded myelin sheathes (see also CMT3A) and CMT2I
    Function/system disorder neurology
    Type disease
    Gene product
    Name myelin protein zero (MPZ)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s)