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Volumn 39, Issue 6, 1996, Pages 761-766

MELAS- and Kearns-Sayre-type commutation with myopathy and autoimmune polyendocrinopathy

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOIMMUNITY; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; KEARNS SAYRE SYNDROME; LACTIC ACIDOSIS; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MULTIPLE ENDOCRINE ADENOMATOSIS; MYOPATHY; POINT MUTATION; PRIORITY JOURNAL; PTOSIS;

EID: 0030009124     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390612     Document Type: Article
Times cited : (50)

References (21)
  • 1
    • 0024328462 scopus 로고
    • Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299
    • (1989) N Engl J Med , vol.320 , pp. 1293-1299
    • Moraes, C.T.1    DiMauro, S.2    Zeviani, M.3
  • 2
    • 0025986459 scopus 로고
    • Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients
    • Yamamoto M, Clemens PR, Engel AG. Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients. Neurology 1991;41:1822-1828
    • (1991) Neurology , vol.41 , pp. 1822-1828
    • Yamamoto, M.1    Clemens, P.R.2    Engel, A.G.3
  • 3
    • 0025666322 scopus 로고
    • A mutation in the tRNA-Leu-(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S. A mutation in the tRNA-Leu-(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-653
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 4
    • 0026013299 scopus 로고
    • Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
    • Tanaka M, Ino H, Ohno K, et al. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1991;174:861-868
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 861-868
    • Tanaka, M.1    Ino, H.2    Ohno, K.3
  • 5
    • 0028948888 scopus 로고
    • High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy
    • Manfredi G, Servidei S, Bonilla E, et al. High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy. Neurology 1995;45: 762-768
    • (1995) Neurology , vol.45 , pp. 762-768
    • Manfredi, G.1    Servidei, S.2    Bonilla, E.3
  • 6
    • 0027230737 scopus 로고
    • A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies
    • Brockington M, Sweeney MG, Hammans SR, et al. A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nature Genet 1993;4:67-71
    • (1993) Nature Genet , vol.4 , pp. 67-71
    • Brockington, M.1    Sweeney, M.G.2    Hammans, S.R.3
  • 8
    • 0027077613 scopus 로고
    • Autoimmune polyglandular syndromes
    • Riley WJ. Autoimmune polyglandular syndromes. Horm Res 1992;38(suppl 2):9-15
    • (1992) Horm Res , vol.38 , Issue.2 SUPPL. , pp. 9-15
    • Riley, W.J.1
  • 9
    • 0027268052 scopus 로고
    • Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics
    • Oka Y, Katagiri H, Yazaki Y, et al. Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics. Lancet 1993;342:527-528
    • (1993) Lancet , vol.342 , pp. 527-528
    • Oka, Y.1    Katagiri, H.2    Yazaki, Y.3
  • 10
    • 0025133424 scopus 로고
    • Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
    • Rotig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-1608
    • (1990) J Clin Invest , vol.86 , pp. 1601-1608
    • Rotig, A.1    Cormier, V.2    Blanche, S.3
  • 11
    • 0028004453 scopus 로고
    • Mitochondrial DNA: Does more lead to less?
    • Poulton J, Holt IJ. Mitochondrial DNA: does more lead to less? Nature Genet 1994;8:313-315
    • (1994) Nature Genet , vol.8 , pp. 313-315
    • Poulton, J.1    Holt, I.J.2
  • 13
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA-Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • van den Ouweland JMW, Lemkes HHP, Ruitenbeek W, et al. Mutation in mitochondrial tRNA-Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992;1:368-371
    • (1992) Nature Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.W.1    Lemkes, H.H.P.2    Ruitenbeek, W.3
  • 14
    • 0027447027 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: Molecular genetic analysis and family study
    • Onishi H, Inoue K, Osaka H, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study. J Neurol Sci 1993;114:205-208
    • (1993) J Neurol Sci , vol.114 , pp. 205-208
    • Onishi, H.1    Inoue, K.2    Osaka, H.3
  • 15
    • 0026468520 scopus 로고
    • Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy
    • Obayashi T, Hattori K, Sugiyama S, et al. Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 1992;124:1263-1269
    • (1992) Am Heart J , vol.124 , pp. 1263-1269
    • Obayashi, T.1    Hattori, K.2    Sugiyama, S.3
  • 16
    • 0028365102 scopus 로고
    • Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associated with a single point mutation in the mitochondrial tRNA-Leu(UUR) gene
    • van den Ouweland JMW, Lemkes PJ, Trembath RC, et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associated with a single point mutation in the mitochondrial tRNA-Leu(UUR) gene. Diabetes 1994;43:746-751
    • (1994) Diabetes , vol.43 , pp. 746-751
    • Van Den Ouweland, J.M.W.1    Lemkes, P.J.2    Trembath, R.C.3
  • 17
    • 0025915472 scopus 로고
    • Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy
    • Ozawa T, Tanaka M, Sugiyama S, et al. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 1991;177: 518-525
    • (1991) Biochem Biophys Res Commun , vol.177 , pp. 518-525
    • Ozawa, T.1    Tanaka, M.2    Sugiyama, S.3
  • 18
    • 0027980845 scopus 로고
    • Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy
    • Reynier P, Figarella-Branger D, Serratrice G, et al. Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy. Biochem Biophys Res Commun 1994;202:1606-1611
    • (1994) Biochem Biophys Res Commun , vol.202 , pp. 1606-1611
    • Reynier, P.1    Figarella-Branger, D.2    Serratrice, G.3
  • 19
    • 0026753354 scopus 로고
    • A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
    • Brown MD, Yang CC, Trounce I, et al. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet 1992;51:378-385
    • (1992) Am J Hum Genet , vol.51 , pp. 378-385
    • Brown, M.D.1    Yang, C.C.2    Trounce, I.3
  • 20
    • 0026457825 scopus 로고
    • Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy
    • Yoneda M, Chomyn A, Martinuzzi A, et al. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci USA 1992;89:11164-11168
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 11164-11168
    • Yoneda, M.1    Chomyn, A.2    Martinuzzi, A.3
  • 21
    • 0027055332 scopus 로고
    • Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts
    • Hayakawa M, Hattoti K, Sugiyama S, Ozawa T. Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts. Biochem Biophys Res Commun 1992;189:979-985
    • (1992) Biochem Biophys Res Commun , vol.189 , pp. 979-985
    • Hayakawa, M.1    Hattoti, K.2    Sugiyama, S.3    Ozawa, T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.