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6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)
Bibliographic Information
- Other Title
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- Molecular Genetics of Dentatorubral-Pallidoluysian Atriohy (DRPLA) (Pathophysiology of Hereditary Neurologic Diseases)
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Description
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By directly searching for cDNAs with CAG repeats as candidates, we found unstable expansion of CAG repeat of a gene (CTG-B37) on chromosome 12 in all the 22 DRPLA patients. There is a good correlation between the sizes of CAG repeat expansion and the ages of onset. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. Thus wide variety of its clinical manifestations can now be explained by the variable unstable expansion of the CAG repeat.
Journal
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- 新潟医学会雑誌
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新潟医学会雑誌 109 (4), 185-190, 1995-04
新潟医学会
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Keywords
Details 詳細情報について
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- CRID
- 1050001339255020928
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- NII Article ID
- 110004465635
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- NII Book ID
- AN00182415
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- ISSN
- 00290440
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- HANDLE
- 10191/42317
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- Text Lang
- ja
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- Article Type
- departmental bulletin paper
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- Data Source
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- IRDB
- CiNii Articles