A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

BACKGROUND: We describe a 4‐generation Dutch pedigree with a unique dominantly inherited clinical phenotype of a combined progressive chorea and cervical dystonia carrying a novel heterozygous dopamine D2 receptor (DRD2) variant. OBJECTIVES: The objective of this study was to identify the genetic ca...

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Publicado no:Mov Disord
Main Authors: van der Weijden, Marlous C.M., Rodriguez‐Contreras, Dayana, Delnooz, Cathérine C.S., Robinson, Brooks G., Condon, Alec F., Kielhold, Michelle L., Stormezand, Gilles N., Ma, Kai Yu, Dufke, Claudia, Williams, John T., Neve, Kim A., Tijssen, Marina A.J., Verbeek, Dineke S.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Regular Issue Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8049080/
https://ncbi.nlm.nih.gov/pubmed/33200438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.28385
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