Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype

Ann N Y Acad Sci. 1999 Sep 14:883:485-9.
No abstract available

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Exons
  • Female
  • Gene Duplication*
  • Heterozygote
  • Humans
  • Male
  • Myelin Proteins / genetics*
  • Pedigree
  • Phenotype
  • Point Mutation*

Substances

  • Myelin Proteins
  • PMP22 protein, human