CMT2B

Charcot-Marie-Tooth disease type 2 subtype B(English)

  • is mainly a sensory disorder, caused by defects in the RAB7A gene, located on chromosome 3. This gene encodes for a protein that is involved in the transport of neurotransmitters. It is not clear how the gene mutations cause CMT2B, but it is suggest that impaired transport of neurotransmitters by the defective RAB7A protein may play a role. CMT2B is characterized by a severe reduction of sensation, especially in the arms and legs
  • CMT
  • Neurology, Congenital disorders
  • https://charcot…th-type-2-cmt2/