Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing.
Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Moon-Woo
MW
Seong
Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Jongmoon
J
Choi
Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea; Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea.
Sung Sup
SS
Park
Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea. Electronic address: jkimmdkr@gmail.com.
Ji Yeon
JY
Kim
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. Electronic address: hjm@snu.ac.kr.
Jeong-Min
JM
Hwang
D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I
LHON; Leber's hereditary optic neuropathy; Mitochondrial genome sequencing; Molecular diagnosis; Next-generation sequencing