Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease

Morgan-Hughes, 1979, A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity, J Neurol Sci, 43, 27, 10.1016/0022-510X(79)90071-6 Busch, 1981, A mitochondrial myopathy with a respiratory chain defect and carnitine deficiency, 207 Prick, 1981, Progressive infantile poliodystrophy: association with disturbed pyruvate oxidation in muscle and liver, Arch Neurol, 38, 767, 10.1001/archneur.1981.00510120067011 Land, 1981, Childhood mitochondrial myopathy with oppthalmoplegia, J Neurol Sci, 51, 371, 10.1016/0022-510X(81)90115-5 Land, 1981, Mitochondrial myopathy: biochemical studies revealing a deficiency of NADH-cytochrome b reductase activity, J Neurol Sci, 50, 1, 10.1016/0022-510X(81)90038-1 Moreadith, 1984, Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis, J Clin Invest, 74, 685, 10.1172/JCI111484 Robinson, 1985, Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia, Am J Hum Genet, 37, 938 Morgan-Hughes, 1977, A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b, Brain, 100, 617, 10.1093/brain/100.4.617 Morgan-Hughes, 1982, Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain, Brain, 105, 553, 10.1093/brain/105.3.553 Spiro, 1970, A cytochrome related inherited disorder of the nervous system and muscle, Arch Neurol, 23, 103, 10.1001/archneur.1970.00480260009002 Sengers, 1983, A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency, Eur J Pediatr, 140, 332, 10.1007/BF00442676 Darley-Usmar, 1983, Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial and lactic acidosis, Proc Natl Acad Sci USA, 80, 5103, 10.1073/pnas.80.16.5103 Monnens, 1975, A metabolic myopathy associated with chronic lacticacidemia, growth failure and nerve deafness, J Pediatr, 86, 983, 10.1016/S0022-3476(75)80269-1 Willems, 1977, Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue, Pediatrics, 60, 850 Van Biervliet, 1977, Hereditary mitochondrial myopathy with lacticacidemia, a DeToni-Fanconi-DeBre syndrome and a defective respiratory chain in voluntary striated muscles, Pediatr Res, 11, 1088, 10.1203/00006450-197711100-00005 DiMauro, 1980, Neurology, 30, 795, 10.1212/WNL.30.8.795 Heiman-Patterson, 1982, Cytochrome-c-oxidase deficiency in a floppy infant, Neurology, 32, 898, 10.1212/WNL.32.8.898 Stansbie, 1982, Mitochondrial myopathy with skeletal muscle cytochrome oxidase deficiency, J Inherit Metab Dis, 5, 27, 10.1007/BF01799812 DiMauro, 1983, Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency, Ann Neurol, 14, 226, 10.1002/ana.410140209 Muller-Hocker, 1983, Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine: a contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle, Virchows Arch Pathol Anat Physiol Klin Med, 399, 11, 10.1007/BF00666215 Prick, 1983, Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients, Clin Neurol Neurosurg, 85, 57, 10.1016/0303-8467(83)90024-0 Sengers, 1983, Deficiency of cytochrome b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency, Eur J Pediatr, 141, 178, 10.1007/BF00443221 Trijbels, 1983, A patient with lactic acidaemia and cytochrome oxidase deficiency, J Inherit Metab Dis, 6, 127, 10.1007/BF01810360 Miyabayashi, 1983, Two siblings with cytochrome-c-oxidase deficiency, J Inher Metab Dis, 6, 121, 10.1007/BF01800742 Bresolin, 1985, Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle, Neurology, 35, 802, 10.1212/WNL.35.6.802 Weiland, 1965, L(+) lactate determination with lactate dehydrogenase from yeast, 271 Bergemeyer, 1965, Methods in enzymatic analysis, 27 Fischer, 1985, Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens, Clin Chim Acta, 145, 89, 10.1016/0009-8981(85)90022-1 Robinson, 1983, Lacticacidosis and neurological deterioration in a child with compromised pyruvate oxidation due to an intracellular redox problem, Eur J Pediatr, 140, 98, 10.1007/BF00441651 Robinson, 1986, Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia, J Clin Invest, 77, 1422, 10.1172/JCI112453 Heron, 1979, An analysis of the polypeptide composition of bovine heart mitochondrial NADH-ubiquinone oxidoreductase by two-dimensional polyacrylamide gel electrophoresis, Biochem J, 181, 435, 10.1042/bj1810435 Saraste, 1983, How complex is a respiratory complex?, Trends Biochem Sci, 8, 139, 10.1016/0968-0004(83)90239-6 Chomyn, 1985, Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH-dehydrogenase, Nature (Lond), 314, 592, 10.1038/314592a0 Millis, 1973, Oxidative phosphorylation in mitochondria isolated from human fibroblasts, Biochim Biophys Acta, 292, 73, 10.1016/0005-2728(73)90251-X