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Subacute necrotizing encephalomyelopathy in an infant
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Leigh D 1951 Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221
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Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue
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Willems JI, Monnens LA, Trijbels LMF, Veerkamp JH, Meyer AE, Van Dam K, van Haelst U 1977 Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 60:850-857
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Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver
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Van Erven PM, Gabreëls FJ, Ruitenbeek W, Den Hartog MR, Fischer JC, Renier WO, Trijbels JM, Sloof JL, Janssen AJ 1985 Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver. Acta Neurol Scand 72:36-42
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Heteroplasmic mtDNA mutation (T → G) at 8993 can cause Leigh's disease when the percentage of abnormal mtDNA is high
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Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH 1992 Heteroplasmic mtDNA mutation (T → G) at 8993 can cause Leigh's disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50:852-858
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The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
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Santorelli F, Shanske S, Macaya A, De Vivo DC, DiMauro S 1993 The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34:827-834
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The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
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Tatuch Y, Robinson BH. 1993 The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun 192:124-128
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A second missense mutation in the mitochondrial ATPase6 gene in Leigh's syndrome
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de Vries DD, van Engelen BG, Gabreëls FJ, Ruitenbeek W, van Oost BA 1993 A second missense mutation in the mitochondrial ATPase6 gene in Leigh's syndrome. Ann Neurol 34:410-412
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A T>C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
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Santorelli F M, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S 1994 A T>C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 44:972-974
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Cytochrome c oxidase in Leigh syndrome
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Di Mauro S, Servidei S, Zeviani M, DiRocco M, De Vivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnsen SD, Johnson PC 1987 Cytochrome c oxidase in Leigh syndrome. Ann Neurol 1987 22:498-506
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Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
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in press
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Vazquez-Memije ME, Shanske S, Santorelli FM, Kranz-Eble P, Davidson E, De Vivo DC, DiMauro S 1996 Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. J Inher Metab Dis (in press)
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0-ATP synthase from Escherichia coli
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0-ATP synthase from Escherichia coli. J Biol Chem 268:12250-12252
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