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c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

OBJECTIVE: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. METHODS: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencin...

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Detalles Bibliográficos
Autores principales:	Shalash, Ali S., Rösler, Thomas W., Müller, Stefanie H., Salama, Mohamed, Deuschl, Günther, Müller, Ulrich, Opladen, Thomas, Petersen, Britt-Sabina, Franke, Andre, Hopfner, Franziska, Kuhlenbäumer, Gregor, Höglinger, Günter U.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682855/ https://www.ncbi.nlm.nih.gov/pubmed/29147684 http://dx.doi.org/10.1212/NXG.0000000000000197

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