Refinement of the DYT15 locus in myoclonus dystonia
Identifieur interne : 001730 ( Istex/Checkpoint ); précédent : 001729; suivant : 001731Refinement of the DYT15 locus in myoclonus dystonia
Auteurs : Fabin Han [Canada] ; Lemuel Racacho [Canada] ; Anthony E. Lang [Canada] ; Dennis E. Bulman [Canada] ; David A. Grimes [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
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Abstract
Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome18p11 (OMIM number: 607488). Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine‐mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21400
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Grimes</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa</wicri:regionArea><wicri:noRegion>Ottawa</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-04-30">2007-04-30</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="888">888</biblScope><biblScope unit="page" to="892">892</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">547EE77CA36D85BC91F0DAB154108B005BF550B2</idno><idno type="DOI">10.1002/mds.21400</idno><idno type="ArticleID">MDS21400</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DYT15</term><term>SGCE</term><term>myoclonus dystonia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome18p11 (OMIM number: 607488). Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine‐mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><country name="Canada"><noRegion><name sortKey="Han, Fabin" sort="Han, Fabin" uniqKey="Han F" first="Fabin" last="Han">Fabin Han</name></noRegion><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E." last="Bulman">Dennis E. Bulman</name><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E." last="Bulman">Dennis E. Bulman</name><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A." last="Grimes">David A. Grimes</name><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A." last="Grimes">David A. Grimes</name><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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