A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'

J Peripher Nerv Syst. 2013 Jun;18(2):192-4. doi: 10.1111/jns5.12019.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Siblings

Substances

  • MTMR2 protein, human
  • Protein Tyrosine Phosphatases, Non-Receptor