[2P-805] Validation and diagnosis of novel variants of mitochondrial diseases associated with the ECHS1 gene

^○Yoshihito Kishita¹, Ayumu Sugiura², Takanori Onuki³, Tomohiro Ebihara⁴, Tetsuro Matsuhashi³, Masaru Shimura³, Takuya Fushimi³, Noriko Ichino², Yoshie Nagatakidani¹, Hitomi Nishihata¹, Kazuhiro R Nitta², Yukiko Yatsuka², Atsuko ImaiOkazaki², Yibo Wu^5,6, Hitoshi Osaka⁷, Akira Ohtake^8,9, Kei Murayama^3,10, Yasushi Okazaki^11,2 (1.Dept. of Life Sci., Fac. of Sci. and Eng., Kindai Univ., 2.Diag. & Therap. of Intractable Dis. Intractable Dis. Res. Cent., Juntendo Univ., 3.Dept. of Metab., Chiba Children's Hosp., 4.Dept. of Neonat., Chiba Children's Hosp., 5.YCI Lab. for Next-Gen. Proteomics, RIKEN Cent. of Integrative Med. Sci., 6.Univ. of Geneva, Sciences II, 7.Dept. of Pediatr., Jichi Med. Univ., 8.Dept. of Pediatr. & Clin. Genomics, Fac. of Med., Saitama Med. Univ., 9.Cent. for Intractable Dis., Saitama Med. Univ. Hosp., 10.Cent. for Med. Genetics, Chiba Children's Hosp., 11.Lab. for Comprehensive Genomic Anal., RIKEN Cent. for Integrative Med. Sci.)