[EO-06] Platform Session 06：Mitochondrial Diseases

[EO-029] Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Mariko Ikeda¹，Syumpei Uchino²，Yoshinobu Oyazato³，Ichizo Nishino⁴，Masakazu Mimaki²，Kandai Nozu⁵ (1. Department of Clinical Genetics, Fujita Health University Hospital, Aichi, Japan，2. Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan，3. Department of Pediatrics, Kakogawa Central City Hospital, Hyogo, Japan，4. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry（NCNP）, Tokyo, Japan，5. Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan)