Article
Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.
Journal of neurology - 1 Apr 2016
Dos Santos Camila Oliveira, Masuho Ikuo, da Silva-Júnior Francisco Pereira, Barbosa Egberto Reis, Silva Sonia Maria Cesar Azevedo, Borges Vanderci, Ferraz Henrique Ballalai, Rocha Maria Sheila Guimarães, Limongi João Carlos Papaterra, Martemyanov Kirill A, de Carvalho Aguiar Patricia
Abstract excerpt
GNAL was identified as a cause of dystonia in patients from North America, Europe and Asia. In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing. Functional characterization of the Gαolf protein variant was...
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