Refinement of the DYT15 locus in myoclonus dystonia
Identifieur interne : 003077 ( Main/Exploration ); précédent : 003076; suivant : 003078Refinement 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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome 18p11 (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.
Affiliations:
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- to stream PascalFrancis, to step Corpus: 001684
- to stream PascalFrancis, to step Curation: 001637
- to stream PascalFrancis, to step Checkpoint: 001491
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Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Refinement of the DYT15 locus in myoclonus dystonia</title>
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<wicri:noRegion>Ottawa</wicri:noRegion>
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<author><name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name>
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<sZ>5 aut.</sZ>
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<sZ>5 aut.</sZ>
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<sZ>2 aut.</sZ>
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<sZ>5 aut.</sZ>
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<sZ>5 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<imprint><date when="2007">2007</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Locus</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
<term>Refinement</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Myoclonie</term>
<term>Dystonie</term>
<term>Affinement</term>
<term>Locus</term>
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<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 chromosome 18p11 (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.</div>
</front>
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<affiliations><list><country><li>Canada</li>
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<tree><country name="Canada"><noRegion><name sortKey="Fabin Han" sort="Fabin Han" uniqKey="Fabin Han" last="Fabin Han">FABIN HAN</name>
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<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>
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<name sortKey="Racacho, Lemuel" sort="Racacho, Lemuel" uniqKey="Racacho L" first="Lemuel" last="Racacho">Lemuel Racacho</name>
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