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Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome

BACKGROUND: Myoclonus dystonia syndrome typically results from autosomal dominant mutations in the epsilon-sarcoglycan gene (SGCE) via the paternally expressed allele on chromosome 7q21. There is evidence that deep brain stimulation (DBS) is beneficial for this genotype, however, there are few prior...

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Detalles Bibliográficos
Autores principales: Shpiner, Danielle S., Peabody, Taylor K., Luca, Corneliu C., Jagid, Jonathan, Moore, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624206/
https://www.ncbi.nlm.nih.gov/pubmed/37928887
http://dx.doi.org/10.5334/tohm.782