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J-GLOBAL ID：201702278501265791   Reference number：17A1044392

Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan

日本におけるLeber遺伝性視神経症の全国的疫学的調査

Author (7)： Ueda Kaori (Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Morizane Yuki (Department of Ophthalmology, Okayama University Graduate School of Medicine, Okayama, Japan) ,  Shiraga Fumio (Department of Ophthalmology, Okayama University Graduate School of Medicine, Okayama, Japan) ,  Shikishima Keigo (Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan) ,  Ishikawa Hitoshi (Department of Orthoptics and Visual Science, School of Allied Health Sciences, Kitasato University, Sagamihara, Kanagawa, Japan) ,  Wakakura Masato (Inouye Eye Hospital, Tokyo, Japan) ,  Nakamura Makoto (Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan)
Material： Journal of Epidemiology (Web)  (J Epidemiol (Web))
Volume： 27  Issue： 9  Page： 447-450  Publication year： 2017 
JST Material Number： U0710A  ISSN： 1349-9092  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *mitochondrial disease ,...
Semi thesaurus term： *LHON ,...

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Author keywords (5)： Annual incidence ,  Gender proportion ,  Leber hereditary optic neuropathy ,  Mitochondrial DNA ,  Penetrance

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Eye diseases  (GP03000U)

Reference (20)：

• Meyerson C, Stavern G, McClelland C. Leber hereditary optic neuropathy: current perspectives. Clin Opthalmology. 2015;9:1165-1176.
• Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002;39:162-169.
• Nakamura MA. Review of the Molecular mechanism of development of Leber hereditary optic neuropathy. Nippon Ganka Gakkai Zasshi. 2005;109:189-196 [in Japanese].
• Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 1996;59:481-485.
• Lin CS, Sharpley MS, Fan W, et al. Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A. 2012;109:20065-20070.

Terms in the title (3)： 日本 ,  Leber遺伝性視神経症 ,  疫学的調査