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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Regular Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049080/
https://www.ncbi.nlm.nih.gov/pubmed/33200438
http://dx.doi.org/10.1002/mds.28385

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049080/
https://www.ncbi.nlm.nih.gov/pubmed/33200438
http://dx.doi.org/10.1002/mds.28385

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