Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 04-04-2019
Symbol CMTX1
Location Xq13.1
HGNC id 2136
Name Charcot-Marie-Tooth disease, type 1
Other name(s) Charcot-Marie-Tooth neuropathy, type 1
Corresponding gene GJB1
related resource Antithrombin Mutation Database
Other symbol(s) CMTX, CMT1X
Main clinical features
  • distal muscle weakness and amyotrophy, sensory loss, in some cases neurosensory deafness, decreased or absent tendon reflexes, high arched feet and intermediate motor nerve conduction velocities
  • recurrent central nervous system symptoms with transient white matter signal changes on MRI (PMID: 24170412))
  • Genetic determination sex linked
    Function/system disorder neurology
    Type disease
    Gene product
    Name gap junction communication channel component (GJB1)
    Gene mutationChromosome rearrangementEffectComments
          V181A severe form, very few gap junction plaques
          E102G , milder form, , reduced gap junction coupling during periods of metabolic stress
  • CCL2 reduction is a promising strategy to treat CMT1 neuropathies, particularly in disease forms where axon damage is predominant as in Cx32def mice and the corresponding human disorder, CMTX1 (PMID: 20591826))
  • most GJB1 mutations cause loss of function and inability of the mutant GJB1 to form functional GJs (PMID: 25449862))