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Volumn 19, Issue 5, 1999, Pages 357-368

Mitochondrial respiratory chain disorders and the liver

Author keywords

Alpers syndrome; Hypoglycaemia; MtDNA depletion syndrome; Pearson syndrome; Progressive neuronal degeneration of childhood

Indexed keywords

ASCORBIC ACID; CELL NUCLEUS DNA; DICHLOROACETIC ACID; GLUCOSE; LACTIC ACID; MENADIONE; MITOCHONDRIAL DNA; RIBOFLAVIN; VALPROIC ACID;

EID: 0032860678     PISSN: 01069543     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1478-3231.1999.tb00063.x     Document Type: Review
Times cited : (65)

References (77)
  • 1
    • 0033525924 scopus 로고    scopus 로고
    • Oxidative phosphorylation at the fin de siecle
    • SARASTE M. Oxidative phosphorylation at the fin de siecle. Science 1999; 283: 1488-93.
    • (1999) Science , vol.283 , pp. 1488-1493
    • Saraste, M.1
  • 2
    • 0033525788 scopus 로고    scopus 로고
    • Mitochondrial evolution
    • GRAY M W, BURGER G, LANG B F. Mitochondrial evolution. Science 1999; 283: 1476-81.
    • (1999) Science , vol.283 , pp. 1476-1481
    • Gray, M.W.1    Burger, G.2    Lang, B.F.3
  • 3
    • 0029587469 scopus 로고
    • Molecular genetic aspects of human mitochondrial disorders
    • LARSSON N-G, CLAYTON D A. Molecular genetic aspects of human mitochondrial disorders. Annu Rev Genet 1995; 29: 157-78.
    • (1995) Annu Rev Genet , vol.29 , pp. 157-178
    • Larsson, N.-G.1    Clayton, D.A.2
  • 4
    • 0031900991 scopus 로고    scopus 로고
    • The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics
    • CHOMYN A. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. Am J Hum Genet 1998; 62: 745-51.
    • (1998) Am J Hum Genet , vol.62 , pp. 745-751
    • Chomyn, A.1
  • 5
    • 0025128972 scopus 로고
    • Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria
    • WATMOUGH N J, BINDOFF L A, BIRCH-MACHIN M A, et al. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. J Clin Invest 1990; 85: 177-84.
    • (1990) J Clin Invest , vol.85 , pp. 177-184
    • Watmough, N.J.1    Bindoff, L.A.2    Birch-Machin, M.A.3
  • 6
    • 0020486155 scopus 로고
    • 31P NMR examination of two patients with NADH-CoQ reductase deficiency
    • 31P NMR examination of two patients with NADH-CoQ reductase deficiency. Nature 1982; 295: 608-9.
    • (1982) Nature , vol.295 , pp. 608-609
    • Radda, G.K.1    Bore, P.J.2    Gadian, D.G.3
  • 7
    • 0031940986 scopus 로고    scopus 로고
    • A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase
    • MELOV S, SCHNEIDER J A, DAY B J, et al. A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nat Genet 1998; 18: 159-63.
    • (1998) Nat Genet , vol.18 , pp. 159-163
    • Melov, S.1    Schneider, J.A.2    Day, B.J.3
  • 8
    • 0027943858 scopus 로고
    • Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis
    • SOKOL R J, TWEDT D, MCKIM J M, et al. Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis. Gastroenterology 1994; 107: 1788-98.
    • (1994) Gastroenterology , vol.107 , pp. 1788-1798
    • Sokol, R.J.1    Twedt, D.2    Mckim, J.M.3
  • 9
    • 0030756162 scopus 로고    scopus 로고
    • Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease
    • MANSOURI A, GAOU I, FROMENTY B, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease. Gastroenterology 1997; 113: 599-605.
    • (1997) Gastroenterology , vol.113 , pp. 599-605
    • Mansouri, A.1    Gaou, I.2    Fromenty, B.3
  • 10
    • 0028836808 scopus 로고
    • Hepatic mitochondrial DNA deletion in alcoholics: Association with microvesicular steatosis
    • FROMENTY B, GRIMBERT S, MANSOURI A, et al. Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis. Gastroenterology 1995; 108: 193-200.
    • (1995) Gastroenterology , vol.108 , pp. 193-200
    • Fromenty, B.1    Grimbert, S.2    Mansouri, A.3
  • 11
    • 0028817865 scopus 로고
    • Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B
    • MCKENZIE R, FRIED M W, SALLIE R, et al. Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B. N Engl J Med 1995; 333: 1099-105.
    • (1995) N Engl J Med , vol.333 , pp. 1099-1105
    • Mckenzie, R.1    Fried, M.W.2    Sallie, R.3
  • 12
    • 0031713986 scopus 로고    scopus 로고
    • Disorders of the mitochondria
    • TREEM W R, SOKOL R J. Disorders of the mitochondria. Semin Liver Dis 1998; 38: 237-54.
    • (1998) Semin Liver Dis , vol.38 , pp. 237-254
    • Treem, W.R.1    Sokol, R.J.2
  • 13
    • 0026712925 scopus 로고
    • Fatal neonatal liver failure and mitochondrial cytopathy: An observation with antenatal ascites
    • FAYON M, LAMIREAU T, BIOULAC-SAGE P, et al. Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. Gastroenterology 1992; 103: 1332-5.
    • (1992) Gastroenterology , vol.103 , pp. 1332-1335
    • Fayon, M.1    Lamireau, T.2    Bioulac-Sage, P.3
  • 14
    • 0030817294 scopus 로고    scopus 로고
    • Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
    • CORMIER-DAIRE V, CHRETIEN D, RUSTIN P, et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 1997: 130: 817-22.
    • (1997) J Pediatr , vol.130 , pp. 817-822
    • Cormier-Daire, V.1    Chretien, D.2    Rustin, P.3
  • 15
    • 0029086830 scopus 로고
    • Mitochondrial respiratory chain defect: A new etiology for neonatal cholestasis and early liver insufficiency
    • GONCALVES I, HERMANS D, CHRETIEN D, et al. Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency. J Hepatol 1995; 23: 290-4.
    • (1995) J Hepatol , vol.23 , pp. 290-294
    • Goncalves, I.1    Hermans, D.2    Chretien, D.3
  • 16
    • 0025880926 scopus 로고
    • Hepatic failure in disorders of oxidative phosphorylation of neonatal onset
    • CORMIER V, RUSTIN P, BONNEFONT J-P, et al. Hepatic failure in disorders of oxidative phosphorylation of neonatal onset. J Pediatr 1991; 119: 951-4.
    • (1991) J Pediatr , vol.119 , pp. 951-954
    • Cormier, V.1    Rustin, P.2    Bonnefont, J.-P.3
  • 17
    • 0025835577 scopus 로고
    • Fatal neonatal hepatocellular deficiency with lactic acidosis: A defect of the respiratory chain
    • PARROT-ROULAUD F, CARRE M, LAMIRAU T et al. Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain. J Inherit Metab Dis 1991; 14: 289-92.
    • (1991) J Inherit Metab Dis , vol.14 , pp. 289-292
    • Parrot-Roulaud, F.1    Carre, M.2    Lamirau, T.3
  • 18
    • 0029046683 scopus 로고
    • Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain
    • MORRIS A A, TAYLOR R W, BIRCH-MACHIN M A, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 1995; 9: 407-11.
    • (1995) Pediatr Nephrol , vol.9 , pp. 407-411
    • Morris, A.A.1    Taylor, R.W.2    Birch-Machin, M.A.3
  • 19
    • 0029147133 scopus 로고
    • Spectrum of mitochondrial DNA deletions in the Pearson marrow-pancreas syndrome
    • RÖTIG A, BOURGERON T, CHRETIEN D, et al. Spectrum of mitochondrial DNA deletions in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995; 4: 1327-30.
    • (1995) Hum Mol Genet , vol.4 , pp. 1327-1330
    • Rötig, A.1    Bourgeron, T.2    Chretien, D.3
  • 20
    • 0031971261 scopus 로고    scopus 로고
    • Liver failure associated with mitochondrial DNA depletion
    • MORRIS A A, TAANMAN J W, BLAKE J, et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol 1998; 28: 556-63.
    • (1998) J Hepatol , vol.28 , pp. 556-563
    • Morris, A.A.1    Taanman, J.W.2    Blake, J.3
  • 21
    • 0030615059 scopus 로고    scopus 로고
    • Mitochondrial electron transport chain defect presenting as hypoglycaemia
    • FRECKMANN M-L, THORBURN D R, KIRBY D M, et al. Mitochondrial electron transport chain defect presenting as hypoglycaemia. J Pediatr 1997; 130: 431-6.
    • (1997) J Pediatr , vol.130 , pp. 431-436
    • Freckmann, M.-L.1    Thorburn, D.R.2    Kirby, D.M.3
  • 22
    • 0032900339 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers syndrome
    • NAVIAUX R K, NYHAN W L, BARSHOP B A, et al. Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers syndrome. Ann Neurol 1999; 45: 54-8.
    • (1999) Ann Neurol , vol.45 , pp. 54-58
    • Naviaux, R.K.1    Nyhan, W.L.2    Barshop, B.A.3
  • 23
    • 0029980584 scopus 로고    scopus 로고
    • Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
    • MAASWINKEL-MOOIJ P D, VAN DEN BOGERT C, SCHOLTE H R, et al. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 1996; 128: 679-83.
    • (1996) J Pediatr , vol.128 , pp. 679-683
    • Maaswinkel-Mooij, P.D.1    Van Den Bogert, C.2    Scholte, H.R.3
  • 24
    • 0028156783 scopus 로고
    • Mitochondrial rearrangements with onset as chronic diarrhea with villous atrophy
    • CORMIER-DAIRE V, BONNEFONT J-P, RUSTIN P, et al. Mitochondrial rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994; 124: 63-70.
    • (1994) J Pediatr , vol.124 , pp. 63-70
    • Cormier-Daire, V.1    Bonnefont, J.-P.2    Rustin, P.3
  • 25
    • 0025133424 scopus 로고
    • Pearson's marrow-pancreas syndrome, a multisystem mitochondrial disorder in infancy
    • RÖTIG A, CORMIER V, BLANCHE S, et al. Pearson's marrow-pancreas syndrome, a multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 1601-8.
    • (1990) J Clin Invest , vol.86 , pp. 1601-1608
    • Rötig, A.1    Cormier, V.2    Blanche, S.3
  • 26
    • 0024999128 scopus 로고
    • Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review
    • HARDING B H. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher Syndrome): a personal review. J Child Neurol 1990; 5: 273-87.
    • (1990) J Child Neurol , vol.5 , pp. 273-287
    • Harding, B.H.1
  • 27
    • 0026469782 scopus 로고
    • Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatoxicity
    • BICKNESE A R, MAY W, HICKEY W F, DODSON W E. Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatoxicity. Ann Neurol 1992; 32: 767-75.
    • (1992) Ann Neurol , vol.32 , pp. 767-775
    • Bicknese, A.R.1    May, W.2    Hickey, W.F.3    Dodson, W.E.4
  • 28
    • 0026611398 scopus 로고
    • 3, depletion is the cause of the deficient mitochondrial respiration induced by chronic valproate administration
    • 3, depletion is the cause of the deficient mitochondrial respiration induced by chronic valproate administration. Biochem Pharmacol 1992; 43: 644-7.
    • (1992) Biochem Pharmacol , vol.43 , pp. 644-647
    • Ponchaut, S.1    Van Hoof, F.2    Veitch, K.3
  • 29
    • 0027679504 scopus 로고
    • Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver
    • BIOULAC-SAGE P, PARROT-ROULAUD F, MAZAT J P, et al. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology 1993; 18: 839-46.
    • (1993) Hepatology , vol.18 , pp. 839-846
    • Bioulac-Sage, P.1    Parrot-Roulaud, F.2    Mazat, J.P.3
  • 30
    • 0020557211 scopus 로고
    • Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia and lactic acidosis in an infant and as fatal hepatopathy in a second cousin
    • BOUSTANY R N, APRILLE J R, HALPERIN J, et al. Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann Neurol 1983; 14: 462-70.
    • (1983) Ann Neurol , vol.14 , pp. 462-470
    • Boustany, R.N.1    Aprille, J.R.2    Halperin, J.3
  • 31
    • 0029869935 scopus 로고    scopus 로고
    • Depletion of mitochondrial DNA in a family with fatal neonatal liver disease
    • BARKER H D, SCHOLTE H R, DINGEMANS K P, et al. Depletion of mitochondrial DNA in a family with fatal neonatal liver disease. J Pediatr 1996; 128: 683-7.
    • (1996) J Pediatr , vol.128 , pp. 683-687
    • Barker, H.D.1    Scholte, H.R.2    Dingemans, K.P.3
  • 32
    • 0018712317 scopus 로고
    • A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
    • PEARSON H, LOBEL J, KOCOSHIS S, et al. A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95: 976-984.
    • (1979) J Pediatr , vol.95 , pp. 976-984
    • Pearson, H.1    Lobel, J.2    Kocoshis, S.3
  • 33
    • 0343251498 scopus 로고    scopus 로고
    • Liver disease in the perinatal infant
    • Wiggleworth J S, Singer D B eds. Oxford: Blackwell
    • DIMMICK J E, JEVON G P. Liver disease in the perinatal infant. In: Wiggleworth J S, Singer D B eds. Textbook of fetal and perinatal pathology. Oxford: Blackwell, 1998: 865-99.
    • (1998) Textbook of Fetal and Perinatal Pathology , pp. 865-899
    • Dimmick, J.E.1    Jevon, G.P.2
  • 34
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • CASARI G, DE Fusco M, CIARMATORI S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973-83.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 35
    • 0025345775 scopus 로고
    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • LARSSON N G, HOLME E, KRISTIANSSON B, et al. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 1990; 28: 131-6.
    • (1990) Pediatr Res , vol.28 , pp. 131-136
    • Larsson, N.G.1    Holme, E.2    Kristiansson, B.3
  • 36
    • 0025968682 scopus 로고
    • Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA
    • MCSHANE M A, HAMMANS S R, SWEENEY M, et al. Pearson Syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991; 48: 39-42.
    • (1991) Am J Hum Genet , vol.48 , pp. 39-42
    • Mcshane M, A.1    Hammans, S.R.2    Sweeney, M.3
  • 37
    • 0026569283 scopus 로고
    • Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia
    • RöTIG A, BESSIS J-L, ROMERO N, et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 1992; 50: 364-70.
    • (1992) Am J Hum Genet , vol.50 , pp. 364-370
    • Rötig, A.1    Bessis, J.-L.2    Romero, N.3
  • 38
    • 0027526665 scopus 로고
    • Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 2223000)
    • RÖTIG A, CORMIER V, CHATELAIN P. Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 2223000). J Clin Invest 1993; 91: 1095-8.
    • (1993) J Clin Invest , vol.91 , pp. 1095-1098
    • Rötig, A.1    Cormier, V.2    Chatelain, P.3
  • 40
    • 0026015896 scopus 로고
    • mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
    • MORAES C T, SHANSKE S, TRISCHLER H-J, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492-501.
    • (1991) Am J Hum Genet , vol.48 , pp. 492-501
    • Moraes, C.T.1    Shanske, S.2    Trischler, H.-J.3
  • 41
    • 0026541124 scopus 로고
    • Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
    • TRITSCHLER H J, ANDREETTA F, MORAES C T, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1992; 42: 209-17.
    • (1992) Neurology , vol.42 , pp. 209-217
    • Tritschler, H.J.1    Andreetta, F.2    Moraes, C.T.3
  • 42
    • 0030927245 scopus 로고    scopus 로고
    • Molecular mechanisms in mitochondrial DNA depletion syndrome
    • TAANMAN J W, BODNAR A G, COOPER J M, et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet 1997; 6: 935-42.
    • (1997) Hum Mol Genet , vol.6 , pp. 935-942
    • Taanman, J.W.1    Bodnar, A.G.2    Cooper, J.M.3
  • 43
    • 0026480006 scopus 로고
    • Fatal infantile liver failure associated with mitochondrial DNA depletion
    • MAZZIOTTA M R, RICCI E, BERTINI E, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992; 121: 896-901.
    • (1992) J Pediatr , vol.121 , pp. 896-901
    • Mazziotta, M.R.1    Ricci, E.2    Bertini, E.3
  • 44
    • 0029869891 scopus 로고    scopus 로고
    • Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family
    • BAKKER H D, VAN DEN BOGERT C, SCHOLTE H R, et al. Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family. J Inherit Metab Dis 1996; 19: 112-4.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 112-114
    • Bakker, H.D.1    Van Den Bogert, C.2    Scholte, H.R.3
  • 45
    • 0028223609 scopus 로고
    • Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion
    • LARSSON N G, OLDFORS A, HOLME E, CLAYTON D A. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 1994; 200: 1374-81.
    • (1994) Biochem Biophys Res Commun , vol.200 , pp. 1374-1381
    • Larsson, N.G.1    Oldfors, A.2    Holme, E.3    Clayton, D.A.4
  • 46
    • 0027496432 scopus 로고
    • Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
    • BODNAR A G, COOPER J M, HOLT I J, et al. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 1993; 53: 663-9.
    • (1993) Am J Hum Genet , vol.53 , pp. 663-669
    • Bodnar, A.G.1    Cooper, J.M.2    Holt, I.J.3
  • 47
    • 0032231707 scopus 로고    scopus 로고
    • A high rate (20-30%) of parental consanguinity in cytochrome oxidase activity
    • VON KLEIST-RETZOW J-C, CORMIER-DAIRE V, DE LONLAY P, et al. A high rate (20-30%) of parental consanguinity in cytochrome oxidase activity. Am J Hum Genet 1998; 63: 428-35.
    • (1998) Am J Hum Genet , vol.63 , pp. 428-435
    • Von Kleist-Retzow, J.-C.1    Cormier-Daire, V.2    De Lonlay, P.3
  • 48
    • 17344365132 scopus 로고    scopus 로고
    • Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
    • VAN DER HEUVEL L, RUITENBEEK W, SMEETS R, et al. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 1998; 62: 262-8.
    • (1998) Am J Hum Genet , vol.62 , pp. 262-268
    • Van Der Heuvel, L.1    Ruitenbeek, W.2    Smeets, R.3
  • 49
    • 0029159804 scopus 로고
    • Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
    • BOURGERON T, RUSTIN P, CHRETIEN D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 1995; 11: 144-9.
    • (1995) Nat Genet. , vol.11 , pp. 144-149
    • Bourgeron, T.1    Rustin, P.2    Chretien, D.3
  • 50
    • 17344362021 scopus 로고    scopus 로고
    • SURF1, encoding a factor involved in the biogenesis of cytochrome oxidase, is mutated in Leigh syndrome
    • ZHU Z, YAO J, JOHNS T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome oxidase, is mutated in Leigh syndrome. Nat Genet 1998; 20: 337-43.
    • (1998) Nat Genet , vol.20 , pp. 337-343
    • Zhu, Z.1    Yao, J.2    Johns, T.3
  • 51
    • 0027379869 scopus 로고
    • Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean
    • MORIN C, MITCHELL G, LAROCHELLE J, et al. Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. Am J Hum Genet 1993; 53: 488-96.
    • (1993) Am J Hum Genet , vol.53 , pp. 488-496
    • Morin, C.1    Mitchell, G.2    Larochelle, J.3
  • 52
    • 0027364451 scopus 로고
    • A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec
    • MERANTE F, PETROVA-BENEDICT R, MACKAY N, et al. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet 1993; 53: 481-7.
    • (1993) Am J Hum Genet , vol.53 , pp. 481-487
    • Merante, F.1    Petrova-Benedict, R.2    Mackay, N.3
  • 53
    • 0000238410 scopus 로고
    • Diffuse progressive degeneration of the gray matter of the cerebrum
    • ALPERS B J. Diffuse progressive degeneration of the gray matter of the cerebrum. Arch Neurol Psychiatry 1931; 25: 469-505.
    • (1931) Arch Neurol Psychiatry , vol.25 , pp. 469-505
    • Alpers, B.J.1
  • 54
    • 0017260560 scopus 로고
    • Infantile diffuse cerebral degeneration with hepatic cirrhosis
    • HUTTENLOCHER P R, SOLITARE G B, ADAMS G. Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol 1976; 33: 186-92.
    • (1976) Arch Neurol , vol.33 , pp. 186-192
    • Huttenlocher, P.R.1    Solitare, G.B.2    Adams, G.3
  • 55
  • 56
    • 0028955157 scopus 로고
    • Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults
    • HARDING B N, ALSANJARI N, SMITH S J M, et al. Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults. J Neurol Neurosurg Psychiatry 1994; 58: 320-5.
    • (1994) J Neurol Neurosurg Psychiatry , vol.58 , pp. 320-325
    • Harding, B.N.1    Alsanjari, N.2    Smith, S.J.M.3
  • 57
    • 0029811567 scopus 로고    scopus 로고
    • Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease
    • MORRIS A A, SINGH-KLER R, PERRY R H, et al. Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease. J Child Neurol 1996; 11: 417-9.
    • (1996) J Child Neurol , vol.11 , pp. 417-419
    • Morris, A.A.1    Singh-Kler, R.2    Perry, R.H.3
  • 58
    • 0019815796 scopus 로고
    • Progressive infantile poliodystrophy, association with disturbed pyruvate oxidation in muscle and liver
    • PRICK M J J, GABREELS F J M, REINER W O, et al. Progressive infantile poliodystrophy, association with disturbed pyruvate oxidation in muscle and liver. Arch Neurol 1981; 38: 767-72.
    • (1981) Arch Neurol , vol.38 , pp. 767-772
    • Prick, M.J.J.1    Gabreels, F.J.M.2    Reiner, W.O.3
  • 59
    • 0025769336 scopus 로고
    • Mitochondrial encephalomyopathies in childhood. 2 clinical manifestations and syndromes
    • TULINIUS M H, HOLME E, KRISTIANSSON B, et al. Mitochondrial encephalomyopathies in childhood. 2 clinical manifestations and syndromes. J Pediatr 1991; 119: 251-9.
    • (1991) J Pediatr , vol.119 , pp. 251-259
    • Tulinius, M.H.1    Holme, E.2    Kristiansson, B.3
  • 60
    • 0344969176 scopus 로고    scopus 로고
    • Respiratory chain complex I and other defects in Alpers disease
    • PETERS H, CHOW C W, KIRBY D, et al. Respiratory chain complex I and other defects in Alpers disease. J Inherit Metab Dis 1998; 21: 75.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 75
    • Peters, H.1    Chow, C.W.2    Kirby, D.3
  • 61
    • 0027955658 scopus 로고
    • Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure
    • EDERY P, GERARD B, CHRETIEN D, et al. Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. Eur J Pediatr 1994; 153: 190-4.
    • (1994) Eur J Pediatr , vol.153 , pp. 190-194
    • Edery, P.1    Gerard, B.2    Chretien, D.3
  • 62
    • 0027931039 scopus 로고
    • Biochemical and molecular investigations in respiratory chain deficiencies
    • RUSTIN P, CHRETIEN D, BOURGERON T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994; 228: 35-51.
    • (1994) Clin Chim Acta , vol.228 , pp. 35-51
    • Rustin, P.1    Chretien, D.2    Bourgeron, T.3
  • 63
    • 0027481838 scopus 로고
    • Problems with the biochemical diagnosis in mitochondrial (encephalo-) myopathies
    • TRIJBELS J M F, SCHOLTE H R, RUITENBEEK W, et al. Problems with the biochemical diagnosis in mitochondrial (encephalo-) myopathies. Eur J Pediatr 1993; 152: 178-84.
    • (1993) Eur J Pediatr , vol.152 , pp. 178-184
    • Trijbels, J.M.F.1    Scholte, H.R.2    Ruitenbeek, W.3
  • 64
    • 0027388963 scopus 로고
    • Cytochrome c oxidase activity in single muscle fibres: Assay techniques and diagnostic applications
    • JOHNSON M A, BINDOFF L A, TURNBULL D M. Cytochrome c oxidase activity in single muscle fibres: assay techniques and diagnostic applications. Ann Neurol 1993; 33: 28-35.
    • (1993) Ann Neurol , vol.33 , pp. 28-35
    • Johnson, M.A.1    Bindoff, L.A.2    Turnbull, D.M.3
  • 65
    • 0029773867 scopus 로고    scopus 로고
    • The treatment of congenital lactic acidoses
    • MORRIS A A, LEONARD J V. The treatment of congenital lactic acidoses. J Inherit Metab Dis 1996; 19: 573-80.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 573-580
    • Morris, A.A.1    Leonard, J.V.2
  • 66
    • 0141610413 scopus 로고
    • Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
    • OGASAHAWA S, ENGEL A G, FRENS D, MACK D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A 1989; 86: 2379-82.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2379-2382
    • Ogasahawa, S.1    Engel, A.G.2    Frens, D.3    Mack, D.4
  • 67
    • 0027336477 scopus 로고
    • 10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease
    • 10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease. Neurology 1993; 43: 884-90.
    • (1993) Neurology , vol.43 , pp. 884-890
    • Matthews, P.M.1    Ford, B.2    Dandurand, R.J.3
  • 69
    • 0021449807 scopus 로고
    • 3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
    • 3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci U S A 1984; 81: 3529-33.
    • (1984) Proc Natl Acad Sci U S A , vol.81 , pp. 3529-3533
    • Eleff, S.1    Kennaway, N.G.2    Buist, N.R.M.3
  • 70
    • 0029072626 scopus 로고
    • Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
    • DE STEFANO N, MATTHEWS P M, FORD B, et al. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 1995; 45: 1193-8.
    • (1995) Neurology , vol.45 , pp. 1193-1198
    • De Stefano, N.1    Matthews, P.M.2    Ford, B.3
  • 71
    • 0031899233 scopus 로고    scopus 로고
    • Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplantation
    • THOMSON M, MCKIERNAN P, BUCKELS J, et al. Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplantation. J Pediatr Gastroenterol Nutr 1998; 26: 478-81.
    • (1998) J Pediatr Gastroenterol Nutr , vol.26 , pp. 478-481
    • Thomson, M.1    Mckiernan, P.2    Buckels, J.3
  • 72
    • 0027497228 scopus 로고
    • Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
    • BERNES S M, BACINO C, PREZANT T R, et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr 1993; 123: 598-602.
    • (1993) J Pediatr , vol.123 , pp. 598-602
    • Bernes, S.M.1    Bacino, C.2    Prezant, T.R.3
  • 73
    • 85045129438 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures
    • In Press
    • BLAKE J C, TAANMAN J-W, MORRIS A A, et al. Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. Am J Pathol (In Press).
    • Am J Pathol
    • Blake, J.C.1    Taanman, J.-W.2    Morris, A.A.3
  • 74
    • 0029887691 scopus 로고    scopus 로고
    • Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin permeabilised cells
    • WANDERS R J A, RUITER J P N, WIJBURG F A, et al. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin permeabilised cells. J Inherit Metab Dis 1996; 19: 133-6.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 133-136
    • Wanders, R.J.A.1    Ruiter, J.P.N.2    Wijburg, F.A.3
  • 75
    • 0030910828 scopus 로고    scopus 로고
    • Skewed segregation of the mtDNA nt 8993 (T to G) mutation in human oocytes
    • BLOK R B, GOOK D A, THORBURN D R, DAHL H-H M. Skewed segregation of the mtDNA nt 8993 (T to G) mutation in human oocytes. Am J Hum Genet 1997; 60: 1495-1501.
    • (1997) Am J Hum Genet , vol.60 , pp. 1495-1501
    • Blok, R.B.1    Gook, D.A.2    Thorburn, D.R.3    Dahl, H.-H.M.4


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