[E5] English Session 5
遺伝・遺伝子異常

[E-027] Severe mitochondrial neurogastrointestinal encephalomyopathy caused by DNA ligase enzyme deficiency

Mariko Taniguchi-Ikeda^1,2, Makiko Tsutsumi², Yoshinobu Oyazato³, Atsushi Nishiyama³, Shunpei Uchino^4,5, Masakazu Mimaki⁵, Hiroki Kurahashi^1,2 (1.Department of Clinical Genetics, Fujita Health University Hospital, Aichi, Japan, 2.Department of Molecular Genetics, Fujita Health University, Aichi, Japan, 3.Department of Pediatrics, Kakogawa Central City Hospital, Hyogo, Japan, 4.Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 5.Department of Pediatrics, Teikyo University Graduate School of Medicine, Tokyo, Japan)