MovDisordV3, Main, Exploration, bibRecord, 003D74

Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation

Identifieur interne : 003D74 ( Main/Exploration ); précédent : 003D73; suivant : 003D75

Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation

Auteurs : Norman Kock [Allemagne, États-Unis] ; Meike Kasten [Allemagne] ; Birgitt Schüle [Allemagne] ; Katja Hedrich [Allemagne] ; Karin Wiegers [Allemagne] ; Kemal Kabakci [Allemagne] ; Johann Hagenah [Allemagne] ; Peter P. Pramstaller [Italie] ; Matthias F. Nitschke [Allemagne] ; Alexander Münchau [Allemagne] ; Jürgen Sperner [Allemagne] ; Christine Klein [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-02.

RBID : ISTEX:5A211A39D93AE83B7717E58A038425586982D29B

Descripteurs français

Pascal (Inist)
- Dystonie, Myoclonie, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Alleles, Child, Child, Preschool, Chromosome Aberrations, Cytoskeletal Proteins (genetics), Disease Progression, Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Exons (genetics), Fathers, Female, Follow-Up Studies, Genes, Dominant (genetics), Genotype, Humans, Male, Membrane Glycoproteins (genetics), Mutagenesis, Insertional (genetics), Myoclonus, Myoclonus (diagnosis), Myoclonus (genetics), Nervous system diseases, Neurologic Examination, Psychomotor Disorders (diagnosis), Psychomotor Disorders (genetics), SGCE gene, Sarcoglycans, Torticollis (diagnosis), Torticollis (genetics), Videotape Recording, genetic heterogeneity, myoclonus–dystonia.
MESH :
- chemical , genetics : Cytoskeletal Proteins, Membrane Glycoproteins.
- diagnosis : Dystonic Disorders, Myoclonus, Psychomotor Disorders, Torticollis.
- genetics : Dystonic Disorders, Exons, Genes, Dominant, Mutagenesis, Insertional, Myoclonus, Psychomotor Disorders, Torticollis.
- Adult, Alleles, Child, Child, Preschool, Chromosome Aberrations, Disease Progression, Fathers, Female, Follow-Up Studies, Genotype, Humans, Male, Neurologic Examination, Sarcoglycans, Videotape Recording.

Abstract

Many cases of myoclonus–dystonia (M‐D) are caused by mutations in the ϵ‐sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M‐D and an SGCE mutation in only one of them, suggesting that M‐D is genetically heterogeneous. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/5A211A39D93AE83B7717E58A038425586982D29B/fulltext/pdf

DOI: 10.1002/mds.10635

Affiliations:

Le document en format XML

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<term>Alleles</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Aberrations</term>
<term>Cytoskeletal Proteins (genetics)</term>
<term>Disease Progression</term>
<term>Dystonia</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Exons (genetics)</term>
<term>Fathers</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Genes, Dominant (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Membrane Glycoproteins (genetics)</term>
<term>Mutagenesis, Insertional (genetics)</term>
<term>Myoclonus</term>
<term>Myoclonus (diagnosis)</term>
<term>Myoclonus (genetics)</term>
<term>Nervous system diseases</term>
<term>Neurologic Examination</term>
<term>Psychomotor Disorders (diagnosis)</term>
<term>Psychomotor Disorders (genetics)</term>
<term>SGCE gene</term>
<term>Sarcoglycans</term>
<term>Torticollis (diagnosis)</term>
<term>Torticollis (genetics)</term>
<term>Videotape Recording</term>
<term>genetic heterogeneity</term>
<term>myoclonus–dystonia</term>
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<term>Psychomotor Disorders</term>
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<term>Genes, Dominant</term>
<term>Mutagenesis, Insertional</term>
<term>Myoclonus</term>
<term>Psychomotor Disorders</term>
<term>Torticollis</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Alleles</term>
<term>Child</term>
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<term>Chromosome Aberrations</term>
<term>Disease Progression</term>
<term>Fathers</term>
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<term>Genotype</term>
<term>Humans</term>
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<term>Neurologic Examination</term>
<term>Sarcoglycans</term>
<term>Videotape Recording</term>
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<term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">Many cases of myoclonus–dystonia (M‐D) are caused by mutations in the ϵ‐sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M‐D and an SGCE mutation in only one of them, suggesting that M‐D is genetically heterogeneous. © 2003 Movement Disorder Society</div>
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<country name="Italie"><noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
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Movement Disorders (revue)

Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation

Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.