Two families with novel PMP22 point mutations: genotype-phenotype correlation

J Peripher Nerv Syst. 2009 Sep;14(3):208-12. doi: 10.1111/j.1529-8027.2009.00235.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Action Potentials
  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Child
  • DNA Mutational Analysis
  • Electrophysiology
  • Female
  • Genotype
  • Humans
  • Male
  • Myelin Proteins / genetics*
  • Neural Conduction
  • Pedigree
  • Phenotype
  • Point Mutation*

Substances

  • Myelin Proteins
  • PMP22 protein, human