Article
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Journal of inherited metabolic disease - 1 Sept 2017
Ogawa Erika, Shimura Masaru, Fushimi Takuya, Tajika Makiko, Ichimoto Keiko, Matsunaga Ayako, Tsuruoka Tomoko, Ishige Mika, Fuchigami Tatsuo, Yamazaki Taro, Mori Masato, Kohda Masakazu, Kishita Yoshihito, Okazaki Yasushi, Takahashi Shori, Ohtake Akira, Murayama Kei
Abstract excerpt
Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS is essential for deeper understanding of the disease, which may lead to the development of new therapies...
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