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Mitochondrial DNA and diseases of the nervous system: The spectrum
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A novel nonsense mutation (G5920A) in the mtDNACOX I gene: Another cause of myopathy with myoglobinuria
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Karadimas CL, Greenstein P, Joseph JT, Bonilla E, Tanji K, Shanske S, Sue CM, DiMauro S (1999) A novel nonsense mutation (G5920A) in the mtDNACOX I gene: another cause of myopathy with myoglobinuria. Am J Hum Genet 65 [Suppl]:A238 (abstract)
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Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
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Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S (1999) Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 45:820-823
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Decreased expression of ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance
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Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain
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3IP NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
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Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy
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Andreu AL, Bruno C. Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH, DiMauro S (1998) Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology 51:1444-1447
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A nonsense mutation (A15059G) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
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Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou G, Shtilbans A, Bonilla E, DiMauro S (1999) A nonsense mutation (A15059G) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann Neurol 45:127-130
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Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration
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A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b
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Leber's hereditary optic neuropathy and complex I deficiency in muscle
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0029919608
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Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
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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 Inherit Metab Dis 19:43-50
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Replacement therapy is effective in familial mitochondrial encephalomyopathy with muscle coenzyme Q10 deficiency
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Servidei S, Spinazzola A, Crociani P, Ricci E, Silvestri G, Keller RK, Simone P, DiMauro S, Tonaii P (1996) Replacement therapy is effective in familial mitochondrial encephalomyopathy with muscle coenzyme Q10 deficiency. Neurology 46:A420 (abstract)
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Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
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Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E, Santorelli FM, Miranda AF, Bonilla E, Mojon DS, BarreiraAA. King MP, DiMauro S (1997) Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 48:1238-1243
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Mitochondrial encephalomyopathies: Back to mendelian genetics
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