Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis

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Great advances have been made in understanding the molecular basis of Charcot-Marie-Tooth disease (CMT) and related neuropathies, namely Dejerine- Sottas disease (DSD), hereditary neuropathy with liability to pressure palsies (HNPP) and congenital hypomyelination (CH). The number of newly uncovered mutations and identified genetic loci is rapidly increasing, and, as a consequence, the classification of these disorders is becoming more complicated. Molecular genetics, animal models, and transfected cell studies are shedding light on function and dysfunction of proteins involved in hereditary myelinopathies - peripheral myelin protein 22 (PMP22), myelin protein zero (PO), connexin 32 (Cx32), and early growth response 2 (EGR2). Gene dosage effect, loss of function, gain of toxic function, and dominant negative effect are possible mechanisms whereby different gene mutations may exert their detrimental action on peripheral nerves. A tentative rational approach to clinical and molecular diagnosis based on genotype-phenotype correlation analysis is described.

Original languageEnglish
Pages (from-to)1498-1509
Number of pages12
JournalMuscle and Nerve
Issue number11
Publication statusPublished - Nov 1999


  • Charcot-Marie-Tooth disease
  • Cx32
  • EGR2
  • HNPP
  • Myelin protein zero
  • PMP22

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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