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Case Reports
. 2007 Jun 15;22(8):1173-5.
doi: 10.1002/mds.21297.

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

Anjum Misbahuddin  1 , Mark Placzek, Graham Lennox, Jan-Willem Taanman, Thomas T Warner
Affiliations
Case Reports

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

Anjum Misbahuddin et al. Mov Disord. .

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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