Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child

BACKGROUND: Myoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE). CASE PRESENTATION: We here in report a twenty months old Saudi boy who presented to us with a concern that the child is unable to walk properly...

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Detalles Bibliográficos
Autores principales: Aljabri, Mohammed F., Kamal, Naglaa M., Alghamdi, Abdulrhman, Alghamdi, Hamdan, Alomairi, Naif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885206/
https://www.ncbi.nlm.nih.gov/pubmed/33588860
http://dx.doi.org/10.1186/s13052-021-00986-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885206/
https://www.ncbi.nlm.nih.gov/pubmed/33588860
http://dx.doi.org/10.1186/s13052-021-00986-w

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