MovDisordV3, PascalFrancis, Curation, bibRecord, 001685

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

Identifieur interne : 001685 ( PascalFrancis/Curation ); précédent : 001684; suivant : 001686

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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A08	`01`	`1`	`ENG`	`@1 Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ∈-sarcoglycan gene`
A11	`01`	`1`		`@1 MISBAHUDDIN (Anjum)`
A11	`02`	`1`		`@1 PLACZEK (Mark)`
A11	`03`	`1`		`@1 LENNOX (Graham)`
A11	`04`	`1`		`@1 TAANMAN (Jan-Willem)`
A11	`05`	`1`		`@1 WARNER (Thomas T.)`
A14	`01`			`@1 Department of Clinical Neurosciences, Royal Free and University College Medical School @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 5 aut.`
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C01	`01`		`ENG`	`@0 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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C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Myoclonie @5 02`
C03	`02`	`X`	`ENG`	`@0 Myoclonus @5 02`
C03	`02`	`X`	`SPA`	`@0 Mioclonia @5 02`
C03	`03`	`X`	`FRE`	`@0 Dystonie @5 03`
C03	`03`	`X`	`ENG`	`@0 Dystonia @5 03`
C03	`03`	`X`	`SPA`	`@0 Distonía @5 03`
C03	`04`	`X`	`FRE`	`@0 Etat dépressif @5 04`
C03	`04`	`X`	`ENG`	`@0 Depression @5 04`
C03	`04`	`X`	`SPA`	`@0 Estado depresivo @5 04`
C03	`05`	`X`	`FRE`	`@0 Exon @5 09`
C03	`05`	`X`	`ENG`	`@0 Exon @5 09`
C03	`05`	`X`	`SPA`	`@0 Exón @5 09`
C03	`06`	`X`	`FRE`	`@0 Mutation @5 10`
C03	`06`	`X`	`ENG`	`@0 Mutation @5 10`
C03	`06`	`X`	`SPA`	`@0 Mutación @5 10`
C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Involuntary movement @5 37`
C07	`01`	`X`	`SPA`	`@0 Movimiento involuntario @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
C07	`03`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 39`
C07	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 39`
C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 39`
C07	`04`	`X`	`FRE`	`@0 Muscle strié pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Striated muscle disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Músculo estriado patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Trouble humeur @5 41`
C07	`05`	`X`	`ENG`	`@0 Mood disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Trastorno humor @5 41`
C07	`06`	`X`	`FRE`	`@0 Encéphale pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`06`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`07`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 43`
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C07	`07`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
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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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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<s5>04</s5>
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<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Estado depresivo</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Exon</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Exon</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Exón</s0>
<s5>09</s5>
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<fC03 i1="06" i2="X" l="FRE"><s0>Mutation</s0>
<s5>10</s5>
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<fC03 i1="06" i2="X" l="ENG"><s0>Mutation</s0>
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   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
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   |type=    RBID
   |clé=     Pascal:07-0349123
   |texte=   Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ∈-sarcoglycan gene
}}

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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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