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

Identifieur interne : 002D12 ( Main/Exploration ); précédent : 002D11; suivant : 002D13

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

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

Source :

Movement Disorders [ 0885-3185 ] ; 2007-06-15.

RBID : ISTEX:C269B5A1829298DD9191791691D7D3AFF7133999

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.

Url:

https://api.istex.fr/document/C269B5A1829298DD9191791691D7D3AFF7133999/fulltext/pdf

DOI: 10.1002/mds.21093

Affiliations:

Le document en format XML

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<author><name sortKey="Kim, Ji Oun" sort="Kim, Ji Oun" uniqKey="Kim J" first="Ji-Youn" last="Kim">Ji-Youn Kim</name>
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<author><name sortKey="Kim, Jong Un" sort="Kim, Jong Un" uniqKey="Kim J" first="Jong-Hun" last="Kim">Jong-Hun Kim</name>
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<author><name sortKey="Kim, Gyeong Oon" sort="Kim, Gyeong Oon" 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, Jong Un" sort="Kim, Jong Un" uniqKey="Kim J" first="Jong-Hun" last="Kim">Jong-Hun Kim</name>
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<author><name sortKey="Kim, Gyeong Oon" sort="Kim, Gyeong Oon" 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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<series><title level="j">Movement Disorders</title>
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<term>Dystonia (complications)</term>
<term>Dystonia (ethnology)</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Gene Expression</term>
<term>Humans</term>
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<term>Middle Aged</term>
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<term>Myoclonus (ethnology)</term>
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<term>Pedigree</term>
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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 toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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