title: Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.
authors.affiliation: Department of Genome Informatics, Osaka University Graduate School of Medicine, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Imai
authors.affiliation: Department of Pediatrics, Toyama Prefectural Central Hospital, Japan.
authors.forename: Shuhei
authors.initials: S
authors.lastname: Fujita
authors.affiliation: Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan.
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Kishita
authors.affiliation: Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Japan.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Kohda
authors.affiliation: Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan.
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Tokuzawa
authors.affiliation: Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Hirata
authors.affiliation: Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Mizuno
authors.affiliation: Department of Pediatrics, Saitama Medical University, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Harashima
authors.affiliation: Department of Genome Informatics, Osaka University Graduate School of Medicine, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Nakaya
authors.affiliation: Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Sakata
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Japan.
authors.forename: Atsuhito
authors.initials: A
authors.lastname: Takeda
authors.affiliation: Department of Pediatrics, Matsudo City Hospital, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Mori
authors.affiliation: Department of Metabolism, Chiba Children's Hospital, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.affiliation: Department of Pediatrics, Saitama Medical University, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtake
authors.affiliation: Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Japan. Electronic address: okazaki@saitama-med.ac.jp.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Okazaki
mesh_terms: D009202:Cardiomyopathies / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D018450:Disease Progression; D004579:Electron Transport / Q000502:physiology; D005260:Female; D006801:Humans; D007223:Infant; D028361:Mitochondrial Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D025261:Mitochondrial Proton-Translocating ATPases / Q000172:deficiency* / Q000235:genetics*
chemical_list: C501005:MT-ATP6 protein, human; C513300:MT-ATP8 protein, human; D025261:Mitochondrial Proton-Translocating ATPases
keywords: Infantile cardiomyopathy; Mitochondrial ATPase 6; Mitochondrial ATPase 8; Mitochondrial cardiomyopathy; Mitochondrial respiratory chain complex V deficiency; m.8528T>C