MovDisordV3, PubMed, Corpus, bibRecord, 003E28

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.

Identifieur interne : 003E28 ( PubMed/Corpus ); précédent : 003E27; suivant : 003E29

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.

Auteurs : D A Grimes ; D. Bulman ; P S George-Hyslop ; A E Lang

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.

RBID : pubmed:11215567

English descriptors

KwdEn :
- Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 11 (genetics), Dystonic Disorders (complications), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Female, Genetic Linkage, Humans, Male, Myoclonus (complications), Myoclonus (diagnosis), Myoclonus (genetics), Pedigree, Point Mutation (genetics), Polymerase Chain Reaction, Receptors, Dopamine D2 (genetics).
MESH :
- chemical , genetics : Receptors, Dopamine D2.
- complications : Dystonic Disorders, Myoclonus.
- diagnosis : Dystonic Disorders, Myoclonus.
- genetics : Chromosomes, Human, Pair 11, Dystonic Disorders, Myoclonus, Point Mutation.
- Adolescent, Child, Child, Preschool, Female, Genetic Linkage, Humans, Male, Pedigree, Polymerase Chain Reaction.

Abstract

Inherited myoclonus-dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous.

PubMed: 11215567

Links to Exploration step

pubmed:11215567

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.</title>
<author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name>
<affiliation><nlm:affiliation>Department of Medicine, The Ottawa Hospital, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bulman, D" sort="Bulman, D" uniqKey="Bulman D" first="D" last="Bulman">D. Bulman</name>
</author>
<author><name sortKey="George Hyslop, P S" sort="George Hyslop, P S" uniqKey="George Hyslop P" first="P S" last="George-Hyslop">P S George-Hyslop</name>
</author>
<author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A E" last="Lang">A E Lang</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2001">2001</date>
<idno type="RBID">pubmed:11215567</idno>
<idno type="pmid">11215567</idno>
<idno type="wicri:Area/PubMed/Corpus">003E28</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.</title>
<author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name>
<affiliation><nlm:affiliation>Department of Medicine, The Ottawa Hospital, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bulman, D" sort="Bulman, D" uniqKey="Bulman D" first="D" last="Bulman">D. Bulman</name>
</author>
<author><name sortKey="George Hyslop, P S" sort="George Hyslop, P S" uniqKey="George Hyslop P" first="P S" last="George-Hyslop">P S George-Hyslop</name>
</author>
<author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A E" last="Lang">A E Lang</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2001" type="published">2001</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosomes, Human, Pair 11 (genetics)</term>
<term>Dystonic Disorders (complications)</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Humans</term>
<term>Male</term>
<term>Myoclonus (complications)</term>
<term>Myoclonus (diagnosis)</term>
<term>Myoclonus (genetics)</term>
<term>Pedigree</term>
<term>Point Mutation (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>Receptors, Dopamine D2 (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Dopamine D2</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 11</term>
<term>Dystonic Disorders</term>
<term>Myoclonus</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Polymerase Chain Reaction</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Inherited myoclonus-dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11215567</PMID>
<DateCreated><Year>2001</Year>
<Month>02</Month>
<Day>15</Day>
</DateCreated>
<DateCompleted><Year>2001</Year>
<Month>06</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2010</Year>
<Month>11</Month>
<Day>18</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>16</Volume>
<Issue>1</Issue>
<PubDate><Year>2001</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.</ArticleTitle>
<Pagination><MedlinePgn>106-10</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Inherited myoclonus-dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Grimes</LastName>
<ForeName>D A</ForeName>
<Initials>DA</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, The Ottawa Hospital, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bulman</LastName>
<ForeName>D</ForeName>
<Initials>D</Initials>
</Author>
<Author ValidYN="Y"><LastName>George-Hyslop</LastName>
<ForeName>P S</ForeName>
<Initials>PS</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lang</LastName>
<ForeName>A E</ForeName>
<Initials>AE</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D017448">Receptors, Dopamine D2</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002880">Chromosomes, Human, Pair 11</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008040">Genetic Linkage</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017448">Receptors, Dopamine D2</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year>
<Month>2</Month>
<Day>24</Day>
<Hour>12</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2001</Year>
<Month>6</Month>
<Day>23</Day>
<Hour>10</Hour>
<Minute>1</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2001</Year>
<Month>2</Month>
<Day>24</Day>
<Hour>12</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">11215567</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003E28 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 003E28 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Corpus
   |type=    RBID
   |clé=     pubmed:11215567
   |texte=   Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i   -Sk "pubmed:11215567" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	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.

Movement Disorders (revue)

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki