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  • Title: Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
    Author: Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT.
    Journal: Mov Disord; 2007 Jun 15; 22(8):1173-5. PubMed ID: 17230465.
    Abstract:
    We describe two affected individuals in a family with myoclonus-dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the epsilon-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression.
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