A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome

J Neurol. 2008 Sep;255(9):1417-8. doi: 10.1007/s00415-008-0896-5. Epub 2008 Jul 7.
No abstract available

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Child, Preschool
  • Family Health
  • Female
  • Humans
  • Male
  • Middle Aged
  • Myelin Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Young Adult

Substances

  • Myelin Proteins
  • PMP22 protein, human