title: Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.
authors.affiliation: Department of Genome Informatics, Osaka University Graduate School of Medicine, 565-0871, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, 565-0871, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Imai
authors.affiliation: Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, 350-1241, Japan.
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Kishita
authors.affiliation: Department of Pediatrics, Toyama Prefectural Central Hospital, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Nakayama
authors.affiliation: Department of Pediatrics, Toyama Prefectural Central Hospital, Japan.
authors.forename: Shuhei
authors.initials: S
authors.lastname: Fujita
authors.affiliation: Department of Pediatrics, Toyama Prefectural Central Hospital, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Futatani
authors.affiliation: Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, 350-1241, 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, 350-1241, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Yatsuka
authors.affiliation: Department of Genome Informatics, Osaka University Graduate School of Medicine, 565-0871, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Nakaya
authors.affiliation: Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, 565-0871, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Sakata
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, 350-0495, 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, 350-1241, Japan; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, 350-1241, Japan. Electronic address: okazaki@saitama-med.ac.jp.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Okazaki
mesh_terms: D020029:Base Pairing / Q000235:genetics; D009202:Cardiomyopathies / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D059788:Dried Blood Spot Testing / Q000379:methods*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D015997:Neonatal Screening / Q000379:methods*; D012720:Severity of Illness Index
keywords: Dried blood spots; Guthrie card; Infantile cardiomyopathy; Mitochondrial cardiomyopathy; m.8528T>C