MovDisordV3, Main, Exploration, bibRecord, 002D28

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

Identifieur interne : 002D28 ( Main/Exploration ); précédent : 002D27; suivant : 002D29

Myoclonus–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.

RBID : ISTEX:600ED1CA6B7407031CCE5F4564E55C3450129B54

Descripteurs français

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

English descriptors

KwdEn :
- Adult, Aged, Antiparkinson Agents (therapeutic use), Depression, Depressive Disorder, Major (diagnosis), Depressive Disorder, Major (epidemiology), Depressive Disorder, Major (psychology), Drug Administration Schedule, Dystonia, Dystonia (drug therapy), Dystonia (epidemiology), Dystonia (genetics), Exon, Exons (genetics), Gene Expression (genetics), Humans, Incidence, Levodopa (therapeutic use), Male, Mutation, Myoclonus, Myoclonus (drug therapy), Myoclonus (epidemiology), Myoclonus (genetics), Nervous system diseases, Point Mutation (genetics), Sarcoglycans (genetics), depression, exon skipping, myoclonus–dystonia syndrome, ε‐sarcoglycan mutation.
MESH :
- chemical , genetics : Sarcoglycans.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Depressive Disorder, Major.
- drug therapy : Dystonia, Myoclonus.
- epidemiology : Depressive Disorder, Major, Dystonia, Myoclonus.
- genetics : Dystonia, Exons, Gene Expression, Myoclonus, Point Mutation.
- psychology : Depressive Disorder, Major.
- Adult, Aged, Drug Administration Schedule, Humans, Incidence, Male.

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:

https://api.istex.fr/document/600ED1CA6B7407031CCE5F4564E55C3450129B54/fulltext/pdf

DOI: 10.1002/mds.21297

Affiliations:

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 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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Movement Disorders (revue)

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

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

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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