Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A

Hum Mutat. 1996;8(4):362-5. doi: 10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0.
No abstract available

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Gene Dosage*
  • Humans
  • Male
  • Mutation
  • Myelin Proteins / genetics*
  • Pedigree

Substances

  • Myelin Proteins
  • PMP22 protein, human