Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome
Taro Yamazaki, Kei Murayama, Alison G Compton, Canny Sugiana, Hiroko Harashima, Shin Amemiya, Masami Ajima, Tomoko Tsuruoka, Ayako Fujinami, Emi Kawachi, Yoshiko Kurashige, Kenshi Matsushita, Hiroshi Wakiguchi, Masato Mori, Hiroyasu Iwasa, Yasushi Okazaki, David R Thorburn, Akira Ohtake
Pediatrics International | WILEY-BLACKWELL | Published : 2014
This work was supported in part by a grant for Innovative Cell Biology by Innovative Technology (Cell Innovation Program) from the Ministry of Education, Culture, Sports, Science and Technology (MEXT), Japan, and Support Project and a grant of Strategic Research Center in Private Universities from the MEXT, Japan to Saitama Medical University Research Center for Genomic Medicine, and by Grants-in-Aid of the Research on Intractable Diseases (Mitochondrial Disorder) from the Ministry of Health, Labour and Welfare of Japan. Dr Murayama was supported by Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics. Dr Thorburn was supported by a Principal Research Fellowship and grants from the National Health and Medical Research Council (NHMRC) of Australia. The authors thank Dr Ri at Kumamoto University, Dr Kaji at Tsuyama Central Hospital and Dr Maegaki at Tottori University for referral of patient materials.