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Myoclonus–dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ε-sarcoglycan gene



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 ε-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression. © 2006 Movement Disorder Society