Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 29-01-2009
Symbol CMT4E
Location 10q21.2
Name hypomyelinating neuropathy, congenital
Other name(s) Charcot-Marie-Tooth disease, type 4 E
Corresponding gene EGR2
Main clinical features
  • characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities
  • nerve biopsies show hypomyelination of most or all fibers
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name early growth response 2