Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study

INTRODUCTION: Myoclonus–dystonia (M–D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets...

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Опубликовано в: :Front Neurol
Главные авторы: Zutt, Rodi, Dijk, Joke M., Peall, Kathryn J., Speelman, Hans, Dreissen, Yasmine E. M., Contarino, Maria Fiorella, Tijssen, Marina A. J.
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2016
Предметы:
Neuroscience
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4865489/
https://ncbi.nlm.nih.gov/pubmed/27242657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2016.00072
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