Novel N-terminal truncating CLCN1 mutation in severe Becker disease

Muscle Nerve. 2014 Nov;50(5):866-7. doi: 10.1002/mus.24312. Epub 2014 Sep 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Chloride Channels / genetics*
  • Humans
  • Male
  • Mutation / genetics*
  • Myotonia Congenita / genetics*

Substances

  • CLC-1 channel
  • Chloride Channels