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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...
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| Vydáno v: | Ital J Pediatr |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7885206/ https://ncbi.nlm.nih.gov/pubmed/33588860 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-021-00986-w |
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