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Volumn , Issue 39, 1999, Pages 42-46

Mitochondrial myopathies. Clinical and diagnostic aspects

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA;

EID: 0032588339     PISSN: 03468720     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (1)

References (23)
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  • 3
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    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719, 1988.
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  • 5
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    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 28: 131-136, 1990.
    • (1990) Pediatr Res , vol.28 , pp. 131-136
    • Larsson, N.G.1    Holme, E.2    Kristiansson, B.3    Oldfors, A.4    Tulinius, M.5
  • 7
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    • A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
    • Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study. J Clin Invest 41: 1776-1804, 1962.
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    • lysA->G (8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres
    • lysA->G (8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol 90: 328-333, 1995.
    • (1995) Acta Neuropathol , vol.90 , pp. 328-333
    • Oldfors, A.1    Holme, E.2    Tulinius, M.3    Larsson, N.-G.4
  • 12
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome. Ann Neurol 16: 481-488, 1984.
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 14
    • 0000027470 scopus 로고
    • Human myopathy with giant abnormal mitochondria
    • Shy GM, Gonatas NK. Human myopathy with giant abnormal mitochondria. Science 145: 493-496, 1964.
    • (1964) Science , vol.145 , pp. 493-496
    • Shy, G.M.1    Gonatas, N.K.2
  • 15
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    • Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy
    • Shy GM, Gonatas NK, Perez M. Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy. Brain 89: 133-158, 1966.
    • (1966) Brain , vol.89 , pp. 133-158
    • Shy, G.M.1    Gonatas, N.K.2    Perez, M.3
  • 18
    • 0025807180 scopus 로고
    • Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations
    • Tulinius MH, Holme E, Kristiansson B, Larsson NG, Oldfors A. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. J Pediatr 119: 242-250, 1991.
    • (1991) J Pediatr , vol.119 , pp. 242-250
    • Tulinius, M.H.1    Holme, E.2    Kristiansson, B.3    Larsson, N.G.4    Oldfors, A.5
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    • Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes
    • Tulinius MH, Holme E, Kristiansson B, Larsson NG, Oldfors A. Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes. J Pediatr 119: 251-259, 1991.
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  • 20
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    • Tulinius MH, Hagne I. EEG findings in children and adolescents with mitochondrial encephalomyopathies. A study of 25 cases. Brain Dev 13: 167-173, 1991.
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    • Tulinius, M.H.1    Hagne, I.2
  • 22
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    • De Novo mutation in the mitochondrial ATPase gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring
    • Tulinius MH, Houshmand M, Larsson N-G, Holme E, Oldfors A, Holmberg E, Wahlström J. De Novo mutation in the mitochondrial ATPase gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. Hum Genet 96: 290-294, 1995.
    • (1995) Hum Genet , vol.96 , pp. 290-294
    • Tulinius, M.H.1    Houshmand, M.2    Larsson, N.-G.3    Holme, E.4    Oldfors, A.5    Holmberg, E.6    Wahlström, J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.