Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

Parkinsonism Relat Disord. 2012 Jun;18(5):704-6. doi: 10.1016/j.parkreldis.2012.02.006. Epub 2012 Mar 3.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Asian People / genetics
  • Child
  • DNA Mutational Analysis
  • Dystonia / genetics*
  • Family Health*
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Young Adult

Substances

  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human

Supplementary concepts

  • Familial paroxysmal dystonia