Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

Hum Mutat. 1998:Suppl 1:S95-8. doi: 10.1002/humu.1380110132.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Male
  • Mutation
  • Myelin Proteins / genetics*
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • DNA