文献

J-GLOBAL ID：202002279031302258   整理番号：20A2334156

Emery-Dreifuss筋ジストロフィーの双生児における全エクソーム配列決定により同定された新規EMD変異【JST・京大機械翻訳】

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy

著者 (14件)： Dai Xiafei (School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China) ,  Dai Xiafei (Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China) ,  Luo Rong (Institute of Cardiovascular Disease, Chengdu Medical College, Chengdu, Sichuan 610500, China) ,  Chen Yang (School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China) ,  Chen Yang (Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China) ,  Zheng Chenqing (Shenzhen RealOmics (Biotech) Co., Ltd., Shenzhen 518081, China) ,  Tang Yibin (Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China) ,  Zhang Hongmei (Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China) ,  Su Ye (School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China) ,  Su Ye (Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China) ,  He Tao (School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China) ,  He Tao (Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China) ,  Li Xiaoping (School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China) ,  Li Xiaoping (Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China)
資料名： Case Reports in Genetics (Web)  (Case Reports in Genetics (Web))
巻： 2020  ページ： Null  発行年： 2020年 
JST資料番号： U7841A  ISSN： 2090-6544  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： この症例は,重度の心臓関与と軽度の筋力低下を伴うEmery-Dreifuss筋ジストロフィーファミリーの双子における新しい半接合フレームシフトEMD変異(c.487delA,p.Ser163fs)を報告する。それらの母親には,同じヘテロ接合突然変異があった。Copyright 2020 Xiafei Dai et al. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： ヘテロ接合 ,  心臓 ,  突然変異 ,  双生児 ,  *筋ジストロフィー ,  筋力低下
準シソーラス用語： *Emery-Dreifuss筋ジストロフィー ,  全エクソーム解析 , 【Automatic Indexing@JST】

分類 (1件)： 先天性疾患・奇形一般  (GD03010V)

引用文献 (21件)：

• A. Madej-Pilarczyk, "Clinical aspects of Emery-Dreifuss muscular dystrophy," Nucleus, vol. 9, no. 1, pp. 268-274, 2018.
• K. Small, S. T. Warren, "Emerin deletions occurring on both Xq28 inversion backgrounds," Human Molecular Genetics, vol. 7, no. 1, pp. 135-139, 1998.
• F. L. M. Norwood, C. Harling, P. F. Chinnery, M. Eagle, K. Bushby, V. Straub, "Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population," Brain, vol. 132, no. 11, pp. 3175-3186, 2009.
• A. E. Emery, F. E. Dreifuss, "Unusual type of benign X-linked muscular dystrophy," Journal of Neurology, Neurosurgery & Psychiatry, vol. 29, no. 4, pp. 338-342, 1966.
• K. Takamoto, K. Hirose, M. Uono, "A genetic variant of Emery-Dreifuss disease," Archives of Neurology, vol. 41, no. 12, pp. 1292-1293, 1984.

タイトルに関連する用語 (5件)： Emery-Dreifuss筋ジストロフィー ,  双生児 ,  全エクソーム配列決定 ,  同定 ,  変異