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Volumn 207, Issue , 2016, Pages 203-205

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

Author keywords

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

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE 6; ADENOSINE TRIPHOSPHATASE 8; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BRAIN NATRIURETIC PEPTIDE; DIURETIC AGENT; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG; ATP SYNTHASE 8, HUMAN; MT-ATP6 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

EID: 84957999059     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2016.01.026     Document Type: Article
Times cited : (24)

References (6)
  • 1
    • 84871219247 scopus 로고    scopus 로고
    • Cardiac involvement in mitochondrial DNA disease: Clinical spectrum, diagnosis, and management
    • M.G. Bates, J.P. Bourke, C. Giordano, G. d'Amati, D.M. Turnbull, and R.W. Taylor Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management Eur. Heart J. 33 2012 3023 3033
    • (2012) Eur. Heart J. , vol.33 , pp. 3023-3033
    • Bates, M.G.1    Bourke, J.P.2    Giordano, C.3    D'Amati, G.4    Turnbull, D.M.5    Taylor, R.W.6
  • 3
    • 66249119710 scopus 로고    scopus 로고
    • Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
    • S.M. Ware, N. El-Hassan, S.G. Kahler, Q. Zhang, Y.W. Ma, E. Miller, and et al. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes J. Med. Genet. 46 2009 308 314
    • (2009) J. Med. Genet. , vol.46 , pp. 308-314
    • Ware, S.M.1    El-Hassan, N.2    Kahler, S.G.3    Zhang, Q.4    Ma, Y.W.5    Miller, E.6
  • 4
    • 84958018431 scopus 로고    scopus 로고
    • A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies
    • in press
    • M. Kohda, Y. Tokuzawa, Y. Kishita, H. Nyuzuki, Y. Moriyama, Y. Mizuno, and et al. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies PLoS Genet. 2016 (in press)
    • (2016) PLoS Genet.
    • Kohda, M.1    Tokuzawa, Y.2    Kishita, Y.3    Nyuzuki, H.4    Moriyama, Y.5    Mizuno, Y.6
  • 5
    • 59449085688 scopus 로고    scopus 로고
    • Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency
    • K. Murayama, H. Nagasaka, T. Tsuruoka, Y. Omata, H. Horie, S. Tregoning, and et al. Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency Eur. J. Pediatr. 168 2009 297 302
    • (2009) Eur. J. Pediatr. , vol.168 , pp. 297-302
    • Murayama, K.1    Nagasaka, H.2    Tsuruoka, T.3    Omata, Y.4    Horie, H.5    Tregoning, S.6
  • 6
    • 29944442438 scopus 로고    scopus 로고
    • Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype
    • L.C. Worgan, K. Niles, J.C. Tirone, A. Hofmann, A. Verner, A. Sammak, and et al. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype Hum. Mutat. 27 2006 31 43
    • (2006) Hum. Mutat. , vol.27 , pp. 31-43
    • Worgan, L.C.1    Niles, K.2    Tirone, J.C.3    Hofmann, A.4    Verner, A.5    Sammak, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.