Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po

Hum Mutat. 1996;8(2):185-6. doi: 10.1002/(SICI)1098-1004(1996)8:2<185::AID-HUMU13>3.0.CO;2-Z.
No abstract available

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Glycosylation
  • Heterozygote
  • Humans
  • Middle Aged
  • Myelin Proteins / genetics*
  • Point Mutation*

Substances

  • Myelin Proteins
  • PMP22 protein, human