Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child
Abstract 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 p...
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2021-02-01T00:00:00Z.
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