메뉴 건너뛰기




Volumn 17, Issue 2, 2007, Pages 215-217

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

Author keywords

Dilated cardiomyopathy; Genetics; Mitochondrial disorders

Indexed keywords

MITOCHONDRIAL PROTEIN; PROTEIN DNAJC19; UNCLASSIFIED DRUG;

EID: 34247194605     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951107000042     Document Type: Article
Times cited : (31)

References (10)
  • 1
    • 21344441228 scopus 로고    scopus 로고
    • Genetics and cardiomyopathy: Where are we now?
    • Murphy RT, Starling RC. Genetics and cardiomyopathy: Where are we now? Cleve Clin J Med 2005; 72: 465-466, 469-470, 472-473.
    • (2005) Cleve Clin J Med , vol.72 , Issue.465-466
    • Murphy, R.T.1    Starling, R.C.2
  • 3
    • 0035756353 scopus 로고    scopus 로고
    • Arrhythmogenic inherited heart muscle diseases in children
    • Towbin JA, Bowles NE. Arrhythmogenic inherited heart muscle diseases in children. J Electrocardiol 2001; 34 (Suppl): 151-165.
    • (2001) J Electrocardiol , vol.34 , Issue.SUPPL. , pp. 151-165
    • Towbin, J.A.1    Bowles, N.E.2
  • 4
    • 33646427709 scopus 로고    scopus 로고
    • Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
    • Davey KM, Parboosingh JS, McLeod DR, et al. Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 2006; 43: 385-393.
    • (2006) J Med Genet , vol.43 , pp. 385-393
    • Davey, K.M.1    Parboosingh, J.S.2    McLeod, D.R.3
  • 5
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity and mortality in 113 pediatric patients with mitochondrial disease
    • Scalglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925-931.
    • (2004) Pediatrics , vol.114 , pp. 925-931
    • Scalglia, F.1    Towbin, J.A.2    Craigen, W.J.3
  • 6
    • 0142025366 scopus 로고    scopus 로고
    • Review: Mitochondrial medicine - cardiomyopathy caused by defective oxidative phosphorylation
    • Fosslein E. Review: Mitochondrial medicine - cardiomyopathy caused by defective oxidative phosphorylation. Ann Clin Lab Sci 2003; 33: 371-395.
    • (2003) Ann Clin Lab Sci , vol.33 , pp. 371-395
    • Fosslein, E.1
  • 7
    • 6044272949 scopus 로고    scopus 로고
    • Clinical presentations of mitochondrial cardiomyopathies
    • Lev D, Nissenkorn A, Leshinsky-Silver E, et al. Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol 2004; 25: 443-450.
    • (2004) Pediatr Cardiol , vol.25 , pp. 443-450
    • Lev, D.1    Nissenkorn, A.2    Leshinsky-Silver, E.3
  • 8
    • 0032470811 scopus 로고    scopus 로고
    • Mutations of SURF-1 in Leigh Syndrome associated with cytochrome c oxidase deficiency
    • Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh Syndrome associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998; 63: 1609-1621.
    • (1998) Am J Hum Genet , vol.63 , pp. 1609-1621
    • Tiranti, V.1    Hoertnagel, K.2    Carrozzo, R.3
  • 9
    • 2142765298 scopus 로고    scopus 로고
    • X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
    • Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update. Am J Med Genet A 2004; 126: 349-354.
    • (2004) Am J Med Genet A , vol.126 , pp. 349-354
    • Barth, P.G.1    Valianpour, F.2    Bowen, V.M.3
  • 10
    • 0141865519 scopus 로고    scopus 로고
    • Tim12, a novel key component of the import motor of the TIM23 protein translocase of mitochondria
    • Mokranjac D, Sichting M, Neupert W, Hell K. Tim12, a novel key component of the import motor of the TIM23 protein translocase of mitochondria. Embo J 2003; 22(19): 4945-4956.
    • (2003) Embo J , vol.22 , Issue.19 , pp. 4945-4956
    • Mokranjac, D.1    Sichting, M.2    Neupert, W.3    Hell, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.