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Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome
Authors: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
Affiliation:1. Department of Pediatrics, Faculty of Medicine, Saitama Medical University, , Saitama, Japan;2. Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, , Melbourne, Australia;3. Department of Metabolism, Chiba Children's Hospital, , Chiba, Japan;4. Department of Pediatrics, Kochi Medical School Kochi University, , Kochi, Japan;5. Department of Pediatrics, Jichi Medical University, , Tochigi, Japan;6. Translational Research Center, International Medical Center, Saitama Medical University, , Saitama, Japan
Abstract:
Keywords:DGUOK deletion mutation  enzymatic diagnosis  mitochondrial DNA depletion syndrome  mitochondrial respiratory chain disorder  racial difference
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