A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

Clin Genet. 2016 Dec;90(6):556-557. doi: 10.1111/cge.12851. Epub 2016 Sep 16.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Arthrogryposis / genetics*
  • Cerebellar Ataxia / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Ion Channels
  • Membrane Proteins
  • Mutation*
  • Sodium Channels / genetics*

Substances

  • Ion Channels
  • Membrane Proteins
  • NALCN protein, human
  • Sodium Channels