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Delayed Diagnoses of SGCE Myoclonus-Dystonia

BACKGROUND: Myoclonus-dystonia due to SGCE mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms. CASE REPORTS: Herein, we report patients misdiagnosed during childhood with Tourette syndrome and dyskinetic ce...

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Detalles Bibliográficos
Autores principales: Varga, M. Georgeta, Nand, Nikita P., LeDoux, Mark S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394200/
https://www.ncbi.nlm.nih.gov/pubmed/32775037
http://dx.doi.org/10.5334/tohm.334