Article
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Journal of inherited metabolic disease - 1 Jul 2020
Ogawa Erika, Fushimi Takuya, Ogawa-Tominaga Minako, Shimura Masaru, Tajika Makiko, Ichimoto Keiko, Matsunaga Ayako, Tsuruoka Tomoko, Ishige Mika, Fuchigami Tatsuo, Yamazaki Taro, Kishita Yoshihito, Kohda Masakazu, Imai-Okazaki Atsuko, Okazaki Yasushi, Morioka Ichiro, Ohtake Akira, Murayama Kei
Abstract excerpt
Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics. As data are scarce in Japan, we analysed the mortality rate and clinical condition of Japanese Leigh syndrome patients that we diagnosed since 2007. Data from 166 Japanese patients...
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