Presentation Information
[P1-10-8]Hepatic mitochondrial DNA depletion syndrome caused by MICOS complex defects
○Yoshihito Kishita1,2, Ayumu Sugiura2, Nanako Omichi1, Masaru Shimura3, Yukiko Yatsuka2, Kouta Nakamura2, Toju Tanaka4, Mitsuru Kubota5, Kei Murayama2,3, Akira Ohtake6, Yasushi Okazaki2,7 (1.Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan, 2.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Re search Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan, 3.Department of Metabolism, Chiba Children's Hospital, Chiba, Japan, 4.Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan, 5.Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan, 6.Department of Pediatrics and Clinical Genomics, Saitama Medical University, Moroyama, Saitama, Japan, 7.Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan)