A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

BACKGROUND: DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. CASE PRESENTATION: We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the TH...

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Detalles Bibliográficos
Autores principales: Grofik, M., Cibulka, M., Olekšáková, J., Turčanová Koprušáková, M., Galanda, T., Necpál, J., Jungová, P., Kurča, E., Winkelmann, J, Zech, M., Jech, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465909/
https://www.ncbi.nlm.nih.gov/pubmed/36096774
http://dx.doi.org/10.1186/s12883-022-02871-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465909/
https://www.ncbi.nlm.nih.gov/pubmed/36096774
http://dx.doi.org/10.1186/s12883-022-02871-3

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