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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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Dettagli Bibliografici
Pubblicato in:Tremor Other Hyperkinet Mov (N Y)
Autori principali: Varga, M. Georgeta, Nand, Nikita P., LeDoux, Mark S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Ubiquity Press 2020
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7394200/
https://ncbi.nlm.nih.gov/pubmed/32775037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5334/tohm.334
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