Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.
Identifieur interne : 002786 ( PubMed/Curation ); précédent : 002785; suivant : 002787Novel 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 KimSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
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
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pubmed:17394247Le 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>
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<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="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang Seok" last="Ki">Chang Seok Ki</name>
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<term>Myoclonus</term>
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