메뉴 건너뛰기




Volumn 40, Issue 5, 2001, Pages 405-408

An 80-year-old Mitochondrial Disease Patient with A3243G tRNALeu (UUR) Gene Presenting Cardiac Dysfunction as the Main Symptom

Author keywords

Cardiomyopathy; Metabolic disorder; Mitochondrial DNA

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

EID: 0035347538     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.40.405     Document Type: Article
Times cited : (14)

References (13)
  • 1
    • 0029587469 scopus 로고
    • Molecular genetic aspects of human mitochondrial disorders
    • Larsson N-G, Claylon DA. Molecular genetic aspects of human mitochondrial disorders. Annu Rev Genetics 29: 151-178, 1995.
    • (1995) Annu Rev Genetics , vol.29 , pp. 151-178
    • Larsson, N.-G.1    Claylon, D.A.2
  • 2
    • 0025666322 scopus 로고
    • Leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653, 1990.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 4
    • 0025534162 scopus 로고
    • Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
    • Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 173: 816-822, 1990.
    • (1990) Biochem Biophys Res Commun , vol.173 , pp. 816-822
    • Kobayashi, Y.1    Momoi, M.Y.2    Tominaga, K.3
  • 5
    • 0031774828 scopus 로고    scopus 로고
    • A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation
    • Kurogouchi F, Oguchi T, Mawatari E, et al. A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation. Am J Nephrol 18: 551-556, 1998.
    • (1998) Am J Nephrol , vol.18 , pp. 551-556
    • Kurogouchi, F.1    Oguchi, T.2    Mawatari, E.3
  • 6
    • 0026906885 scopus 로고
    • (Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • (Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1: 368-371, 1992.
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3
  • 8
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondrial diseases. a study on 17 patients with documented mitochondrial DNA defects
    • Anan R, Nakagawa M, Miyata M, et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91: 955-961, 1995.
    • (1995) Circulation , vol.91 , pp. 955-961
    • Anan, R.1    Nakagawa, M.2    Miyata, M.3
  • 9
    • 0031053733 scopus 로고    scopus 로고
    • Maternally inherited cardiomyopathy: A new phenotype associated with the a to G at nt.3243 of mitochondrial DNA (MELAS mutation)
    • Silvestri G, Bertini E, Servidei S, et al. Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation). Muscle Nerve 20: 221-225, 1997
    • (1997) Muscle Nerve , vol.20 , pp. 221-225
    • Silvestri, G.1    Bertini, E.2    Servidei, S.3
  • 10
    • 0026637067 scopus 로고
    • Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
    • Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 90: 61-66, 1992.
    • (1992) J Clin Invest , vol.90 , pp. 61-66
    • Suomalainen, A.1    Majander, A.2    Haltia, M.3
  • 11
    • 0026718556 scopus 로고
    • Leu(UUR) mutation in mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlation in skeletal muscle
    • Leu(UUR) mutation in mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlation in skeletal muscle. Am J Hum Genet 50: 934-949, 1992.
    • (1992) Am J Hum Genet , vol.50 , pp. 934-949
    • Moraes, C.T.1    Ricci, E.2    Bonilla, E.3    Di-Mauro, S.4    Schon, E.A.5
  • 12
    • 0033525773 scopus 로고    scopus 로고
    • Mitochondrial diseases in man and mouse
    • Wallace DC. Mitochondrial diseases in man and mouse. Science 283: 1482-1488, 1999.
    • (1999) Science , vol.283 , pp. 1482-1488
    • Wallace, D.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.