文献

J-GLOBAL ID：201402213679476543   整理番号：14A0794990

進行性外眼筋麻痺,白質脳症,および性腺機能低下症を有する患者でのミトコンドリアDNAにおける多重欠失

Multiple Deletions in Mitochondrial DNA in a Patient with Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism

著者 (20件)： OHNUKI Yuko (Dep. of Molecular Life Sci., Basic Medical Sci. and Molecular Medicine, Tokai Univ. School of Medicine, JPN) ,  OHNUKI Yuko (Dep. of Clinical Genetics, Tokai Univ. Hospital, JPN) ,  TAKAHASHI Kazumi (Dep. of Clinical Genetics, Tokai Univ. Hospital, JPN) ,  TAKAHASHI Kazumi (Dep. of Obstetrics and Gynecology, Tokai Univ. School of Medicine, JPN) ,  IIJIMA Eri (Dep. of Internal Medicine, Div. of Neurology, Tokai Univ. School of Medicine, JPN) ,  TAKAHASHI Wakoh (Dep. of Internal Medicine, Div. of Neurology, Tokai Univ. School of Medicine, JPN) ,  SUZUKI Shingo (Dep. of Molecular Life Sci., Basic Medical Sci. and Molecular Medicine, Tokai Univ. School of Medicine, JPN) ,  OZAKI Yuki (Dep. of Molecular Life Sci., Basic Medical Sci. and Molecular Medicine, Tokai Univ. School of Medicine, JPN) ,  KITAO Ruriko (Dep. of Neurology, National Hakone Hospital, JPN) ,  MIHARA Masatoshi (Dep. of Neurology, National Hakone Hospital, JPN) ,  ISHIHARA Tadayuki (Dep. of Neurology, National Hakone Hospital, JPN) ,  NAKAMURA Michiyo (Dep. of Mental Retardation and Birth Defect Res., National Center of Neurology and Psychiatry, JPN) ,  SAWANO Yoshie (Dep. of Mental Retardation and Birth Defect Res., National Center of Neurology and Psychiatry, JPN) ,  GOTO Yu-ichi (Dep. of Mental Retardation and Birth Defect Res., National Center of Neurology and Psychiatry, JPN) ,  IZUMI Shunichiro (Dep. of Clinical Genetics, Tokai Univ. Hospital, JPN) ,  IZUMI Shunichiro (Dep. of Obstetrics and Gynecology, Tokai Univ. School of Medicine, JPN) ,  K. KULSKI Jerzy (Dep. of Molecular Life Sci., Basic Medical Sci. and Molecular Medicine, Tokai Univ. School of Medicine, JPN) ,  K. KULSKI Jerzy (Centre for Forensic Sci., The Univ. of Western Australia, AUS) ,  SHIINA Takashi (Dep. of Molecular Life Sci., Basic Medical Sci. and Molecular Medicine, Tokai Univ. School of Medicine, JPN) ,  TAKIZAWA Shunya (Dep. of Internal Medicine, Div. of Neurology, Tokai Univ. School of Medicine, JPN)
資料名： Internal Medicine (Web)  (Internal Medicine (Web))
巻： 53  号： 12  ページ： 1365-1369 (J-STAGE)  発行年： 2014年 
JST資料番号： U0033A  ISSN： 1349-7235  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 進行性外眼筋麻痺(PEO)は主要ミトコンドリア病の一種である...

シソーラス用語： DNA【核酸】 ,...
準シソーラス用語： ミトコンドリアDNA ,...

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分類 (2件)： 遺伝的変異  (EC01030Y) ,  先天性疾患・奇形の診断  (GD03020G)

引用文献 (11件)：

• 1. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. In: GeneReviews^® at GeneTests: Medical Genetics Infromation Resource (database online). Copyright. Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, Eds. University of Washington, Seattle, May 2011: 1993-2014. Available at http://www.genetests.org. Accessed June 11, 2013
• 2. Ronchi D, Garone C, Bordoni A, et al. Next-generation sequencing revieals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 135: 3404-3415, 2012.
• 3. Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study. Lancet 364: 875-882, 2004.
• 4. Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28: 211-212, 2001.
• 5. Longley MJ, Clark S, Yu Wai, et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 78: 1026-1034, 2006.

タイトルに関連する用語 (7件)： 進行性外眼筋麻痺 ,  白質脳症 ,  性腺機能低下症 ,  患者 ,  ミトコンドリアDNA ,  多重 ,  欠失