A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment

BACKGROUND: Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia (DYT 5). One of the hallmarks of this condition is dramatic and sustained response to low doses of levodopa. CASE REPORT: We present the case of a 22 year old female patient with genetically c...

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Detalles Bibliográficos
Autores principales: Bradley, Maeve, Lyons, Shane, Coleman, Sarah, Vance, Roisin, Molloy, Fiona, Widdess-Walsh, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231451/
https://www.ncbi.nlm.nih.gov/pubmed/34221698
http://dx.doi.org/10.5334/tohm.619

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231451/
https://www.ncbi.nlm.nih.gov/pubmed/34221698
http://dx.doi.org/10.5334/tohm.619

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