Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant

Mov Disord. 2021 Jun;36(6):1472-1473. doi: 10.1002/mds.28634.
No abstract available

Keywords: DRD2; Huntington disease-like syndrome; chorea; dopamine receptor.

Publication types

  • Letter
  • Comment

MeSH terms

  • Child
  • Chorea* / genetics
  • Dystonia*
  • Gain of Function Mutation
  • Humans
  • Phenotype
  • Receptors, Dopamine D2 / genetics

Substances

  • DRD2 protein, human
  • Receptors, Dopamine D2