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A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation

INTRODUCTION: Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause. In the last few years, deep brain stimulation (DBS) has shown significant promise in trea...

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Publicado no:Neurol Ther
Main Authors: Besa Lehmann, Valentina, Rosenbaum, Marc, Bulman, Dennis E., Read, Tara, Verhagen Metman, Leo
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Healthcare 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229070/
https://ncbi.nlm.nih.gov/pubmed/32274660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s40120-020-00186-4
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