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GENATLAS PHENOTYPE
last update : 11-05-2009
Symbol CMT2B1
Location 1q22
Name Charcot-Marie-Tooth disease, axonal, type 2B1
Other name(s) Charcot-Marie-Tooth neuropathy type 2B1
Corresponding gene LMNA
Other symbol(s) ARCMT2
Main clinical features
  • onset in the second decade, involving upper limbs and proximal muscles, with normal motor-nerve conduction velocity, leading to a severe condition in less than four years
  • began most often in the second decade and progressed gradually from distal to proximal muscles
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name lamin A/C
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R298C, mostly frequent (Bouhouche 2007)
    Remark(s)