Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein

Atsuko Imai; Shuhei Fujita; Yoshihito Kishita; Masakazu Kohda; Yoshimi Tokuzawa; Tomoko Hirata; Yosuke Mizuno; Hiroko Harashima; Akihiro Nakaya; Yasushi Sakata; Atsuhito Takeda; Masato Mori; Kei Murayama; Akira Ohtake; Yasushi Okazaki

doi:10.1016/j.ijcard.2016.01.026

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein

Int J Cardiol. 2016 Mar 15:207:203-5. doi: 10.1016/j.ijcard.2016.01.026. Epub 2016 Jan 7.

Authors

Affiliations

¹ Department of Genome Informatics, Osaka University Graduate School of Medicine, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan.
² Department of Pediatrics, Toyama Prefectural Central Hospital, Japan.
³ Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan.
⁴ Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Japan.
⁵ Department of Pediatrics, Saitama Medical University, Japan.
⁶ Department of Genome Informatics, Osaka University Graduate School of Medicine, Japan.
⁷ Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan.
⁸ Department of Pediatrics, Hokkaido University Graduate School of Medicine, Japan.
⁹ Department of Pediatrics, Matsudo City Hospital, Japan.
¹⁰ Department of Metabolism, Chiba Children's Hospital, Japan.
¹¹ 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: [email protected].

PMID: 26803244
DOI: 10.1016/j.ijcard.2016.01.026

No abstract available

Keywords: Infantile cardiomyopathy; Mitochondrial ATPase 6; Mitochondrial ATPase 8; Mitochondrial cardiomyopathy; Mitochondrial respiratory chain complex V deficiency; m.8528T>C.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathies / complications
Cardiomyopathies / diagnostic imaging
Cardiomyopathies / genetics*
Disease Progression
Electron Transport / physiology
Female
Humans
Infant
Mitochondrial Diseases / complications
Mitochondrial Diseases / diagnostic imaging
Mitochondrial Diseases / genetics*
Mitochondrial Proton-Translocating ATPases / deficiency*
Mitochondrial Proton-Translocating ATPases / genetics*

Substances

MT-ATP6 protein, human
MT-ATP8 protein, human
Mitochondrial Proton-Translocating ATPases