A Patient with Myotonic Dystrophy Type 1 (DM1) Accompanied by Laryngeal and Renal Cell Carcinomas Had a Small CTG Triplet Repeat Expansion But No Somatic Instability in Normal Tissues.
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- KINOSHITA Masanobu
- The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
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- OSANAI Ryuichi
- The Department of Otolaryngology, Saitama Medical Center, Saitama Medical School
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- KIKKAWA Masaru
- The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
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- ADACHI Akiko
- The Department of Pathology, Saitama Medical Center, Saitama Medical School
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- OHTAKE Toshiyuki
- The Department of Neurology, Tokyo Metropolitan Neurological Hospital
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- KOMORI Tetsuo
- The Department of Neurology, Tokyo Metropolitan Neurological Hospital
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- HASHIMOTO Kohzo
- Toyobo Gene Analysis Co. LTD, Tsuruga and 5Ueno Hospital Internal Medicine
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- ITOYAMA Shinnji
- The Department of Pathology, Saitama Medical Center, Saitama Medical School
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- MITARAI Tetsuya
- The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
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- HIROSE Kazuhiko
- Ueno Hospital Internal Medicine
書誌事項
- タイトル別名
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- Patient with Myotonic Dystrophy Type 1 DM1 Accompanied by Laryngeal and Renal Cell Carcinomas Had a Small CTG Triplet Repeat Expansion But No Somatic Instability in Normal Tissues
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説明
We examined (CTG)n lengths in various tissues from a 70-year-old man with myotonic dystrophy type 1 (DM1) who had a small 60-70 (CTG)n expansion in his leukocytes. He died of renal cell carcinoma 5 years after a total laryngectomy for laryngeal carcinoma. Southern blot and polymerase chain reaction analyses were done on tissues obtained at autopsy. In the various normal tissues, (CTG)n lengths were almost all the same size, whereas the renal cell carcinoma and metastatic tissues had longer lengths. When compared with the lengths in leukocytes about 5 years previously, (CTG)n lengths in the normal tissues were the same size. These findings suggest that both somatic instability and age-dependent (CTG)n expansion in DM1 patients with a small expansion may be less dominant than in patients with large expansions.<br>(Internal Medicine 41: 312-318, 2002)
収録刊行物
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- Internal Medicine
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Internal Medicine 41 (4), 312-318, 2002
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
- 1390282679845391488
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- NII論文ID
- 10008354834
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- NII書誌ID
- AA10827774
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- COI
- 1:STN:280:DC%2BD383lsVCjuw%3D%3D
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- ISSN
- 13497235
- 09182918
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- NDL書誌ID
- 6262858
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- PubMed
- 11993794
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可