Article
The prevalence of PRKRA mutations in idiopathic dystonia.
Parkinsonism & related disorders - 1 Mar 2018
Dos Santos Camila Oliveira, da Silva-Júnior Francisco Pereira, Puga Renato David, Barbosa Egberto Reis, Azevedo Silva Sonia Maria Cesar, Borges Vanderci, Limongi João Carlos Papaterra, Rocha Maria Sheila Guimarães, Ferraz Henrique Ballalai, de Carvalho Aguiar Patricia
Abstract excerpt
INTRODUCTION: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia. METHODS: We sequenced PRKRA in 153 unrelated Brazilian patients with idiopathic dystonia. The frequency of novel missense variants...
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