A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

J Neurol Sci. 2019 Jan 15:396:199-201. doi: 10.1016/j.jns.2018.11.024. Epub 2018 Nov 22.
No abstract available

Keywords: ANO3; Early-onset generalized dystonia; Myoclonus.

Publication types

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

MeSH terms

  • Anoctamins / genetics*
  • Child, Preschool
  • Dystonia / genetics*
  • Dystonia / metabolism
  • Dystonia / physiopathology
  • Humans
  • Male
  • Mutation / genetics*

Substances

  • ANO3 protein, human
  • Anoctamins