Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ)

Neurogenetics. 2000 Sep;3(1):49-50. doi: 10.1007/pl00022981.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology
  • Connexins / genetics*
  • Exons
  • Gap Junction beta-1 Protein
  • Gene Duplication
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Mutation*
  • Myelin P0 Protein / genetics*
  • Myelin Proteins / genetics*
  • Sural Nerve / pathology
  • Sural Nerve / physiopathology

Substances

  • Connexins
  • Myelin P0 Protein
  • Myelin Proteins
  • PMP22 protein, human