A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients

Hong Kong Med J. 2016 Dec;22(6):619-22. doi: 10.12809/hkmj154579.
No abstract available

Keywords: Chorea; Mutation; Phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Dystonia / genetics*
  • Family Health
  • Female
  • Hong Kong
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Young Adult

Substances

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

Supplementary concepts

  • Familial paroxysmal dystonia