JSCN2022

Presentation information

Platform Session

[EO-06] Platform Session 06:Mitochondrial Diseases

Fri. Jun 3, 2022 8:20 AM - 9:00 AM Room 6 (Medium Conference Room 202)

Chair: Prasad Asuri N.(Department of Pediatrics Faculty of Medicine Weste),Akira Ohtake(Saitama Medical University)

[EO-028] Biallelic variants in PNPLA8 disrupt cortical gyrification through aberrant mitochondrial dynamics

Yuji Nakamura1,Issei S Shimada2,Masanori Fujimoto1,Emi Sato1,Fuyuki Miya3,Tatsuhiko Tsunoda3,Yukimune Okubo4,Kazuhiro Haginoya4,Eriko Koshimizu5,Satoko Miyatake5,Naomichi Matsumoto5,Akihiko Miyauchi6,Yoichi Kato2,Shinji Saitoh1 (1. Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan,2. Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Naogya, Japan,3. Department of Medical Science Mathematics, Medical Research Institute, Tokyo, Japan,4. Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan,5. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan,6. Department of Pediatrics, Jichi Medical University, Tochigi, Japan)

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