Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

Neurology. 2006 Mar 14;66(5):745-7. doi: 10.1212/01.wnl.0000201269.46071.35.

Abstract

Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.

Publication types

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

MeSH terms

  • Age of Onset
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Child
  • Exons
  • Genetic Carrier Screening
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Sequence Deletion*
  • Sural Nerve / pathology

Substances

  • Membrane Proteins
  • periaxin