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

✍ Scribed by Anjum Misbahuddin; Mark Placzek; Graham Lennox; Jan-Willem Taanman; Thomas T. Warner

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 90 KB
Volume: 22
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21297

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✦ Synopsis

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 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

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## Abstract In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (__SGCE__) gene, leading to a frameshift wi