메뉴 건너뛰기




Volumn 91, Issue 6, 1996, Pages 654-658

A large-scale deletion of mitochondrial DNA in a case with pure mitochondrial myopathy and neuropathy

Author keywords

Mitochondrial DNA deletion; Mitochondrial myopathy; Mitochondrial neuropathy

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0029931390     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050480     Document Type: Article
Times cited : (14)

References (22)
  • 3
    • 0015074561 scopus 로고
    • Segmental demyelination secondary to axonal degeneration in uremic neuropathy
    • Dyck PJ, Johnson WJ, Lambert EH, O'Brien PC (1971) Segmental demyelination secondary to axonal degeneration in uremic neuropathy, Mayo Clin Proc 46: 400-431
    • (1971) Mayo Clin Proc , vol.46 , pp. 400-431
    • Dyck, P.J.1    Johnson, W.J.2    Lambert, E.H.3    O'Brien, P.C.4
  • 5
    • 0028024359 scopus 로고
    • Point mutations in mitochondrial tRNA genes: Sequence analysis of chronic progressive external ophthalmoplegia (CPEO)
    • Hattori Y, Goto Y, Sakuta R, Nonaka I, Mizuno Y, Horai S (1994) Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO). J Neurol Sci 125: 50-55
    • (1994) J Neurol Sci , vol.125 , pp. 50-55
    • Hattori, Y.1    Goto, Y.2    Sakuta, R.3    Nonaka, I.4    Mizuno, Y.5    Horai, S.6
  • 6
    • 0023883150 scopus 로고
    • Deletions of mitochondrial DNA in patients with mitochondrial myopathies
    • Holt U, Harding AE, Morgan-Hughes JA (1988) Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, U.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 7
    • 0025345775 scopus 로고
    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M (1990) Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 28: 131-136
    • (1990) Pediatr Res , vol.28 , pp. 131-136
    • Larsson, N.G.1    Holme, E.2    Kristiansson, B.3    Oldfors, A.4    Tulinius, M.5
  • 8
    • 0024328462 scopus 로고
    • Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Moraes CT, DiMauro S, Zeviani M (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320: 1293-1299
    • (1989) N Engl J Med , vol.320 , pp. 1293-1299
    • Moraes, C.T.1    Dimauro, S.2    Zeviani, M.3
  • 16
    • 0027158417 scopus 로고
    • Neuropathy associated with mitochondrial disorders
    • Schröder JM (1993) Neuropathy associated with mitochondrial disorders. Brain Pathol 3: 177-190
    • (1993) Brain Pathol , vol.3 , pp. 177-190
    • Schröder, J.M.1
  • 17
    • 0027960070 scopus 로고
    • Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene
    • Seibel P, Lauber J, Klopstock T, Marsac C, Kadenbach B, Reichmann H (1994) Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. Biochem Biophys Res Commun 204: 482-489
    • (1994) Biochem Biophys Res Commun , vol.204 , pp. 482-489
    • Seibel, P.1    Lauber, J.2    Klopstock, T.3    Marsac, C.4    Kadenbach, B.5    Reichmann, H.6
  • 18
    • 0029362934 scopus 로고
    • Mitochondrial encephalomyopathies: Gene mutation
    • Servidei S (1995) Mitochondrial encephalomyopathies: gene mutation. Neuromusc Disord 5: 9-12
    • (1995) Neuromusc Disord , vol.5 , pp. 9-12
    • Servidei, S.1
  • 21
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of mitochondrial DNA disease
    • Wallace DC, Zheng XX, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC (1988) Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of mitochondrial DNA disease. Cell 55: 601-610
    • (1988) Cell , vol.55 , pp. 601-610
    • Wallace, D.C.1    Zheng, X.X.2    Lott, M.T.3    Shoffner, J.M.4    Hodge, J.A.5    Kelley, R.I.6    Epstein, C.M.7    Hopkins, L.C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.