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GENATLAS PHENOTYPE
last update : 20/06/2006
Symbol CMT4B2
Location 11p15
Name Charcot-Marie-Tooth disease, type 4B2
Other name(s) Charcot-Marie-Tooth neuropathy type 4B2
Corresponding gene SBF2
Main clinical features
  • demyelinating, with early onset, decreased nerve conduction velocity and focally folded myelin sheaths
    • Genetic determination autosomal recessive
    Related entries including forms with early-onset glaucoma (OMIM 607739)
    Function/system disorder neurology
    Type disease
    Gene product
    Name SET binding factor 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     glaucoma associates with nonsense mutations