MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001574

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

Identifieur interne : 001574 ( PascalFrancis/Checkpoint ); précédent : 001573; suivant : 001575

Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ∈-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.

RBID : Pascal:07-0349123

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Myoclonie, Dystonie, Etat dépressif, Exon, Mutation.

English descriptors

KwdEn :
- Depression, Dystonia, Exon, Mutation, Myoclonus, Nervous system diseases.

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 e-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression.

Affiliations:

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Pascal:07-0349123

Le document en format XML

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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 e-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression.</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

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

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

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Descripteurs français

English descriptors

Abstract

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