MovDisordV3, PascalFrancis, Curation, bibRecord, 001637

Refinement of the DYT15 locus in myoclonus dystonia

Identifieur interne : 001637 ( PascalFrancis/Curation ); précédent : 001636; suivant : 001638

Refinement 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.

RBID : Pascal:07-0263073

Descripteurs français

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

English descriptors

KwdEn :
- Dystonia, Locus, Myoclonus, Nervous system diseases, Refinement.

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.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 22`
A06				`@2 6`
A08	`01`	`1`	`ENG`	`@1 Refinement of the DYT15 locus in myoclonus dystonia`
A11	`01`	`1`		`@1 FABIN HAN`
A11	`02`	`1`		`@1 RACACHO (Lemuel)`
A11	`03`	`1`		`@1 LANG (Anthony E.)`
A11	`04`	`1`		`@1 BULMAN (Dennis E.)`
A11	`05`	`1`		`@1 GRIMES (David A.)`
A14	`01`			`@1 Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease @2 Ottawa @3 CAN @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 5 aut.`
A14	`02`			`@1 Department of Medicine, Division of Neurology, The University Health Network -Toronto Western Hospital @2 Toronto @3 CAN @Z 3 aut.`
A14	`03`			`@1 Department of Medicine, Division of Neurology, The Ottawa Hospital @2 Ottawa @3 CAN @Z 4 aut. @Z 5 aut.`
A20				`@1 888-892`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000149445250240`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 17 ref.`
A47	`01`	`1`		`@0 07-0263073`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C02	`03`	`X`		`@0 002B17A01`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
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 Affinement @5 09`
C03	`04`	`X`	`ENG`	`@0 Refinement @5 09`
C03	`04`	`X`	`SPA`	`@0 Afinamiento @5 09`
C03	`05`	`X`	`FRE`	`@0 Locus @5 10`
C03	`05`	`X`	`ENG`	`@0 Locus @5 10`
C03	`05`	`X`	`SPA`	`@0 Locus @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 Encéphale pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 42`
N21				`@1 176`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Links toward previous steps (curation, corpus...)

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Pascal:07-0263073

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>
<author><name sortKey="Fabin Han" sort="Fabin Han" uniqKey="Fabin Han" last="Fabin Han">FABIN HAN</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<country>Canada</country>
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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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<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
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<sZ>4 aut.</sZ>
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<country>Canada</country>
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</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medicine, Division of Neurology, The University Health Network -Toronto Western Hospital</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E." last="Bulman">Dennis E. Bulman</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medicine, Division of Neurology, The Ottawa Hospital</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A." last="Grimes">David A. Grimes</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
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<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
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</affiliation>
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<s3>CAN</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
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<term>Refinement</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Myoclonie</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>
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</fA03>
<fA05><s2>22</s2>
</fA05>
<fA06><s2>6</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Refinement of the DYT15 locus in myoclonus dystonia</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>FABIN HAN</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>RACACHO (Lemuel)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>LANG (Anthony E.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>BULMAN (Dennis E.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>GRIMES (David A.)</s1>
</fA11>
<fA14 i1="01"><s1>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Medicine, Division of Neurology, The University Health Network -Toronto Western Hospital</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Medicine, Division of Neurology, The Ottawa Hospital</s1>
<s2>Ottawa</s2>
<s3>CAN</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA20><s1>888-892</s1>
</fA20>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
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<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A01</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Myoclonie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Myoclonus</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Mioclonia</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Distonía</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Affinement</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Refinement</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Afinamiento</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Locus</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Locus</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Locus</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>37</s5>
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<fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>176</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
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   |texte=   Refinement of the DYT15 locus in myoclonus dystonia
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	Movement Disorders (revue)
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Movement Disorders (revue)

Refinement of the DYT15 locus in myoclonus dystonia

Refinement of the DYT15 locus in myoclonus dystonia

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Abstract

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