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 : 002D13Novel 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.
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:
DOI: 10.1002/mds.21093
Affiliations:
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Le document en format XML
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<term>Dystonia (complications)</term>
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