MovDisordV3, Main, Merge, bibRecord, 004164

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

Identifieur interne : 004164 ( Main/Merge ); précédent : 004163; suivant : 004165

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.

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to stream PascalFrancis, to step Corpus: 001636
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to stream PascalFrancis, to step Checkpoint: 001574

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Pascal:07-0349123

Le document en format XML

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<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
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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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<name sortKey="Lennox, Graham" sort="Lennox, Graham" uniqKey="Lennox G" first="Graham" last="Lennox">Graham Lennox</name>
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<name sortKey="Taanman, Jan Willem" sort="Taanman, Jan Willem" uniqKey="Taanman J" first="Jan-Willem" last="Taanman">Jan-Willem Taanman</name>
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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

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri