Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

Neurology. 2014 Sep 23;83(13):1217-8. doi: 10.1212/WNL.0000000000000812. Epub 2014 Aug 15.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • CLC-2 Chloride Channels
  • Chloride Channels / genetics*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Homozygote
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / physiopathology
  • Leukodystrophy, Metachromatic / diagnosis
  • Leukodystrophy, Metachromatic / genetics*
  • Male
  • Mutation* / genetics

Substances

  • CLC-2 Chloride Channels
  • Chloride Channels