An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation

J Neurol Neurosurg Psychiatry. 2004 Feb;75(2):343. doi: 10.1136/jnnp.2003.018432.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Chloride Channels / genetics*
  • DNA Repeat Expansion / genetics*
  • Female
  • Humans
  • Middle Aged
  • Myotonic Disorders / genetics*
  • Point Mutation / genetics
  • RNA-Binding Proteins / genetics*

Substances

  • CLC-1 channel
  • CNBP protein, human
  • Chloride Channels
  • RNA-Binding Proteins