Articles with "myoclonus phenotype" as a keyword



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

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Published in 2020 at "Neurology and Therapy"

DOI: 10.1007/s40120-020-00186-4

Abstract: 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… read more here.

Keywords: case; isolated myoclonus; myoclonus; myoclonus phenotype ... See more keywords