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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Ubiquity Press
2020
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| 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 |