Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

Am J Med Genet A. 2007 Sep 15;143A(18):2196-9. doi: 10.1002/ajmg.a.31908.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Hearing Disorders / complications
  • Hearing Disorders / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Proline / genetics*
  • Threonine / genetics*

Substances

  • Threonine
  • Proline