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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| 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 |