Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene
Identifieur interne : 001836 ( Istex/Checkpoint ); précédent : 001835; suivant : 001837Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene
Auteurs : Anjum Misbahuddin [Royaume-Uni] ; Mark Placzek [Royaume-Uni] ; Graham Lennox [Royaume-Uni] ; Jan-Willem Taanman [Royaume-Uni] ; Thomas T. Warner [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-06-15.
English descriptors
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
Url:
DOI: 10.1002/mds.21297
Affiliations:
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<front><div type="abstract" xml:lang="en">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</div>
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