A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
Marlous C M van der WeijdenDayana Rodriguez-ContrerasCathérine C S DelnoozBrooks G RobinsonAlec F CondonMichelle L KielholdGilles N StormezandKai Yu MaClaudia DufkeJohn T WilliamsKim A NeveMarina A J TijssenDineke S VerbeekPublished in: Movement disorders : official journal of the Movement Disorder Society (2020)
Our results support an association between the novel p.Ile212Phe variant in DRD2, its modified D2 receptor activity, and the hyperkinetic movement disorder reported in the 4-generation pedigree. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.