Molecular Base of "de novo" DRPLA
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- HATTORI Manabu
- The Department of Neurology, Tosei General Hospital
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- YUASA Hiroyuki
- The Second Department of Internal Medicine, Nagoya City University
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- TAKADA Koji
- The Department of Neurology, Tosei General Hospital
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- YAMADA Tomoyuki
- The Department of Neurology, Tosei General Hospital
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- YAMADA Kentaro
- The Department of Neurology, Tosei General Hospital
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- KAMIMOTO Kaoru
- The Department of Neurology, Tosei General Hospital
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- UCHIDA Masao
- The Department of Neurology, Tosei General Hospital
書誌事項
- タイトル別名
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- Genetic Analysis of a Dentatorubral-Pallidoluysian Atrophy Family: Relevance to Apparent Sporadic Cases.
この論文をさがす
説明
Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with an unstable CAG trinucleotide sequence. We describe a DRPLA family whose members have an allele containing an expanded CAG repeat, even in an elderly neurologically normal individual. The proband developed DRPLA at age 14. She was initially considered a sporadic case, but later her sister became symptomatic. Investigation of the number of CAG repeat units in her family revealed the 81-year-old father to have an expanded CAG repeat of 51 units. To our knowledge, such an advanced aged unaffected patient has not been previously documented. The present example may explain apparent sporadic cases.<br>(Internal Medicine 38: 287-289, 1999)
収録刊行物
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- Internal Medicine
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Internal Medicine 38 (3), 287-289, 1999
一般社団法人 日本内科学会
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詳細情報 詳細情報について
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- CRID
- 1390282679843506176
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- NII論文ID
- 10005896507
- 10005896845
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- NII書誌ID
- AA10827774
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- COI
- 1:STN:280:DyaK1M3mvValtA%3D%3D
- 1:STN:280:DyaK1M3mvVamsw%3D%3D
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- ISSN
- 13497235
- 09182918
- http://id.crossref.org/issn/09182918
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- NDL書誌ID
- 4714915
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- 本文言語コード
- en
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- 資料種別
- editorial
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- データソース種別
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- JaLC
- NDLサーチ
- Crossref
- PubMed
- CiNii Articles
- OpenAIRE
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- 抄録ライセンスフラグ
- 使用不可