MovDisordV3, PubMed, Corpus, bibRecord, 002786

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.

Identifieur interne : 002786 ( PubMed/Corpus ); précédent : 002785; suivant : 002787

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.

Auteurs : Eun Joo Chung ; Won Yong Lee ; Ji-Youn Kim ; Jong-Hun Kim ; Gyeong-Moon Kim ; Chang Seok Ki ; In-Suk Kim

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17394247

English descriptors

KwdEn :
- Asian Continental Ancestry Group (genetics), Brain (radiography), Cerebral Angiography, Diagnosis, Differential, Dystonia (complications), Dystonia (ethnology), Dystonia (genetics), Female, Gene Expression, Humans, Korea, Middle Aged, Moyamoya Disease (diagnosis), Mutation (genetics), Myoclonus (complications), Myoclonus (ethnology), Myoclonus (genetics), Pedigree, Phenotype, Sarcoglycans (genetics).
MESH :
- chemical , genetics : Sarcoglycans.
- geographic : Korea.
- complications : Dystonia, Myoclonus.
- diagnosis : Moyamoya Disease.
- ethnology : Dystonia, Myoclonus.
- genetics : Asian Continental Ancestry Group, Dystonia, Mutation, Myoclonus.
- radiography : Brain.
- Cerebral Angiography, Diagnosis, Differential, Female, Gene Expression, Humans, Middle Aged, Pedigree, Phenotype.

DOI: 10.1002/mds.21093
PubMed: 17394247

Links to Exploration step

pubmed:17394247

Le document en format XML

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<author><name sortKey="Chung, Eun Joo" sort="Chung, Eun Joo" uniqKey="Chung E" first="Eun Joo" last="Chung">Eun Joo Chung</name>
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<author><name sortKey="Lee, Won Yong" sort="Lee, Won Yong" uniqKey="Lee W" first="Won Yong" last="Lee">Won Yong Lee</name>
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<author><name sortKey="Kim, Ji Youn" sort="Kim, Ji Youn" uniqKey="Kim J" first="Ji-Youn" last="Kim">Ji-Youn Kim</name>
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<author><name sortKey="Kim, Jong Hun" sort="Kim, Jong Hun" uniqKey="Kim J" first="Jong-Hun" last="Kim">Jong-Hun Kim</name>
</author>
<author><name sortKey="Kim, Gyeong Moon" sort="Kim, Gyeong Moon" uniqKey="Kim G" first="Gyeong-Moon" last="Kim">Gyeong-Moon Kim</name>
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<author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang Seok" last="Ki">Chang Seok Ki</name>
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<author><name sortKey="Kim, In Suk" sort="Kim, In Suk" uniqKey="Kim I" first="In-Suk" last="Kim">In-Suk Kim</name>
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<author><name sortKey="Lee, Won Yong" sort="Lee, Won Yong" uniqKey="Lee W" first="Won Yong" last="Lee">Won Yong Lee</name>
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<author><name sortKey="Kim, Ji Youn" sort="Kim, Ji Youn" uniqKey="Kim J" first="Ji-Youn" last="Kim">Ji-Youn Kim</name>
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<author><name sortKey="Kim, Jong Hun" sort="Kim, Jong Hun" uniqKey="Kim J" first="Jong-Hun" last="Kim">Jong-Hun Kim</name>
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<author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang Seok" last="Ki">Chang Seok Ki</name>
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<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Gene Expression</term>
<term>Humans</term>
<term>Korea</term>
<term>Middle Aged</term>
<term>Moyamoya Disease (diagnosis)</term>
<term>Mutation (genetics)</term>
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<term>Myoclonus (ethnology)</term>
<term>Myoclonus (genetics)</term>
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<term>Phenotype</term>
<term>Sarcoglycans (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Moyamoya Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term>
<term>Dystonia</term>
<term>Mutation</term>
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<keywords scheme="MESH" qualifier="radiography" xml:lang="en"><term>Brain</term>
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<keywords scheme="MESH" xml:lang="en"><term>Cerebral Angiography</term>
<term>Diagnosis, Differential</term>
<term>Female</term>
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<PubDate><Year>2007</Year>
<Month>Jun</Month>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.</ArticleTitle>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.

Source :

English descriptors

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