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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...
Autores principales: | Zutt, Rodi, Dijk, Joke M., Peall, Kathryn J., Speelman, Hans, Dreissen, Yasmine E. M., Contarino, Maria Fiorella, Tijssen, Marina A. J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4865489/ https://www.ncbi.nlm.nih.gov/pubmed/27242657 http://dx.doi.org/10.3389/fneur.2016.00072 |
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