De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
Identifieur interne : 000609 ( Main/Exploration ); précédent : 000608; suivant : 000610De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
Auteurs : Valerija Dobri I [Allemagne] ; Nikola Kresojevi ; Ana Westenberger ; Marina Svetel ; Aleksandra Tomi ; Vesna Rali ; Igor Petrovi ; Milica Je Menica Luki ; Katja Lohmann ; Ivana Novakovi ; Christine Klein ; Vladimir S. KostiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
Descripteurs français
- Wicri :
- geographic : Serbie.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : GTP-Binding Protein alpha Subunits.
- geographic : Serbia.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Mutation.
- Adolescent, Adult, Aged, Child, Child, Preschool, Female, Genetic Testing, Humans, Infant, Male, Middle Aged, Young Adult.
Abstract
Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.
DOI: 10.1002/mds.25876
PubMed: 24729450
Affiliations:
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Le document en format XML
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Kosti</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Child, Preschool</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>GTP-Binding Protein alpha Subunits (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Serbia</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP-Binding Protein alpha Subunits</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Serbia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Predisposition to Disease</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Serbie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S" last="Kosti">Vladimir S. Kosti</name><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><name sortKey="Luki, Milica Je Menica" sort="Luki, Milica Je Menica" uniqKey="Luki M" first="Milica Je Menica" last="Luki">Milica Je Menica Luki</name><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name><name sortKey="Petrovi, Igor" sort="Petrovi, Igor" uniqKey="Petrovi I" first="Igor" last="Petrovi">Igor Petrovi</name><name sortKey="Rali, Vesna" sort="Rali, Vesna" uniqKey="Rali V" first="Vesna" last="Rali">Vesna Rali</name><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><name sortKey="Tomi, Aleksandra" sort="Tomi, Aleksandra" uniqKey="Tomi A" first="Aleksandra" last="Tomi">Aleksandra Tomi</name><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri I">Valerija Dobri I</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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