Novel compound heterozygous mutations in PRKRA cause pure dystonia

Mov Disord. 2015 May;30(6):877-8. doi: 10.1002/mds.26175. Epub 2015 Mar 4.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • DNA Copy Number Variations / genetics*
  • Dystonic Disorders / genetics*
  • Exome / genetics*
  • Family Health*
  • Female
  • Humans
  • Male
  • RNA-Binding Proteins / genetics*

Substances

  • RNA-Binding Proteins