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GENATLAS PHENOTYPE
last update : 17-12-2011
Symbol CMT4B1
Location 11q21
Name Charcot-Marie-Tooth disease, type 4B1
Other name(s) Charcot-Marie-Tooth neuropathy type 4B1
Corresponding gene MTMR2
Other symbol(s) CMT4B
Main clinical features
  • demyelinating, recessive, with early onset, severe progressive evolution, decreased nerve conduction velocity and focally folded myelin sheaths
  • excessive redundant myelin, also known as myelin outfoldings (PMID: 19587293))
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name myotubularin related protein 2 (MTMR2)
    Remark(s) loss of MTMR2 in patients, by decreasing Schwann cells proliferation and survival, may impair the first stages of myelination of the peripheral nervous system (Chojnowski 2007)