Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2

Muscle Nerve. 2010 Jun;41(6):888-9. doi: 10.1002/mus.21663.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Arginine / genetics
  • Charcot-Marie-Tooth Disease / genetics*
  • Codon / genetics
  • Cysteine / genetics
  • Early Growth Response Protein 2 / genetics*
  • Female
  • Humans

Substances

  • Codon
  • EGR2 protein, human
  • Early Growth Response Protein 2
  • Arginine
  • Cysteine