Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

J Med Genet. 2005 Apr;42(4):358-65. doi: 10.1136/jmg.2004.022178.
No abstract available

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Aberrations
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Founder Effect*
  • Genetic Testing / methods*
  • Genetic Variation*
  • Haplotypes
  • Humans
  • Inheritance Patterns / genetics*
  • Male
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype*
  • Proteins / genetics*
  • Spain

Substances

  • GDAP protein
  • Nerve Tissue Proteins
  • Proteins