Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia

Parkinsonism Relat Disord. 2019 Jul:64:346-348. doi: 10.1016/j.parkreldis.2019.04.019. Epub 2019 Apr 26.
No abstract available

Keywords: Anoctamin-3; Early-onset dystonia; Myoclonic dystonia.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Anoctamins / genetics*
  • Dystonic Disorders / diagnosis*
  • Dystonic Disorders / genetics*
  • Humans
  • Male
  • Young Adult

Substances

  • ANO3 protein, human
  • Anoctamins

Supplementary concepts

  • Myoclonic dystonia