A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family

BACKGROUND: DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late parkinsonian manifestations and/or dystonic features. Genetically, these patients have been described as having a wide array of independent mutations in the guanosine triphosphate cyclohydrolase 1 gene...

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Detalles Bibliográficos
Autores principales: Bernal-Pacheco, Oscar, Oyama, Genko, Briton, Angela, Singleton, Andrew B., Fernandez, Hubert H., Rodriguez, Ramon L., Malaty, Irene A., Okun, Michael S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2013
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822405/
https://www.ncbi.nlm.nih.gov/pubmed/24255805

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