Article
Clinical findings of a myoclonus-dystonia family with two distinct mutations.
Neurology - 22 Oct 2002
Doheny D, Danisi F, Smith C, Morrison C, Velickovic M, De Leon D, Bressman S B, Leung J, Ozelius L, Klein C, Breakefield X O, Brin M F, Silverman J M
Abstract excerpt
Myoclonus-dystonia has recently been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21. Previously, the authors reported a patient with myoclonus-dystonia and an 18-bp deletion in the DYT1 gene on 9q34. The authors have now re-evaluated the patient harboring this deletion for mutations in the SGCE gene and identified a missense change. In the current study, the authors describe the clinical...
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