Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 13-04-2016
Symbol CMT2CC
Location 22q12.2
Name Charcot-Marie-Tooth disease, axonal, type 2CC
Corresponding gene NEFH
Main clinical features
  • progressive lower-limb weakness, sensory loss in the feet, and occasional cramps. He started using support for walking in his early 20 years and began using a wheelchair in his mid-20 years
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
  • frameshift variants in NEFH in two multigenerational families affected by autosomal-dominant CMT2 (CMT2T) (PMID: 27040688))
  • cryptic amyloidogenic elements (CAEs) encoded by the 3′ UTR of NEFH lead to aggregation and neuronal degeneration in affected individuals (PMID: 27040688))