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References OMIM Gene GeneReviews HGMD HGNC
last update : 29-01-2009
Symbol CMT3A
Location 1q22
Name hypomyelination neuropathy, congenital
Corresponding gene MPZ
related resource Antithrombin Mutation Database
Other symbol(s) CMT4E
Main clinical features
  • characterized by onset in infancy of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocity, with joint contractures or arthrogryposis multiplex congenita
  • Genetic determination autosomal recessive
    autosomal dominant
    Related entries including CMT4E
    Function/system disorder neurology
    Type disease
    Gene product
    Name myelin protein zero (MPZ)