References
Bakker HD, Scholte HR, Jeneson JA. Vitamin E in a mitochondrial myopathy with proliferating mitochondria. Lancet 1993;342(8864):175.
Bennett MJ, Sherwood WG, Gibson KM, Burlina AB. Secondary inhibition of multiple NAD-requiring dehydogenases in respiratory complex I deficiency: Possible metabolic markers for the primary defect. J Inher Metab Dis 1993;16:560-62.
Bradley JL, Blake JC, Chamberlain S, et al. Clinical, biochemical, and molecular genetic correlations in Friedreich's ataxia. Hum Molec Gen 2000;9(2):275-82.
Brown GK, Scholem RD, Hunt SM, et al. Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency. J Inher Metab Dis 1987;10(4):359-66.
Chae JH, Hwang H, Lim BC, et al. Clinical features of A3243G mitochondrial tRNA mutation. Brain Dev 2004;26:459-62.
Chinnery PF, Bindoff LA. 116th ENMC international workshop: The treatment of mitochondrial disease, 14th-16th March 2003, Naarden, The Netherlands. Neuromusc Dis 2003;13:757-64.
Clarencon F, Touze E, Leroy-Willig A, et al. Spastic paraparesis as a manifestation of Leber's disease. J Neurol 2006;253:525-6.
Coude FX, Ogier H, Marsac C, et al. Secondary citrullinemia with hyperammonemia in four cases of pyruvate carboxylase deficiency. Pediatrics 1981;68(6):914-
Darin N, Oldfors A, Moslemi AR, et al. The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001;49:377-83.
Di Donato S. Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegeration. J Inher Metab Dis 2000;23(3):247-63.
DiMauro S, Schon EA. The mitochondrial respiratory chain and its disorders. In Mitochondrial Medicine. DiMauro S, Hirano M, Schon EA, eds. Informa Healthcare, Abingdon UK, 2006, 7-26.
Eleff S, Kennaway NG, Buist NR, et al. 31P 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. PNAS 1984;81(11):3529.
Enns GM, Bennett MJ, Hoppel CL, et al. Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long chain 3-hydoxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 2000;136:251-4.
Feillet F, Bodamer OA, Dixon MA, et al. Resting energy expenditure in disorders of propionate metabolism. J Pediatr 2000; 136(5):659-63.
Haas RH, Parikh S, Falk MJ, et al. Mitochondrial disease: A practical approach for primary care physicians. Pediatrics 2007;120(6):1326-1333.
Hagenfeldt L. Compromised fatty acid oxidation in mitochondrial disorders. J Inher Metab Dis 1998;21(5):613-7.
Jeppesen TD, Schwartz M, Olsen DB, et al. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain 2006;129(Pt12):3402-12.
Hayasaka K, Metoki K, Satoh T, et al. Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic and methylmalonic acidemia: A reduction of cytochrome c oxidase activity. Tohoku J Exp Med 1982;137(3):329-34.
Kendall F. Personal communication, 2007.
Mahoney D, Parise G, Tarnopolsky MA. Nutritional and exercise-based therapies in the treatment of mitochondrial disease. Curr Opin Clin Nutr Metab Care 2002;5(6):619-29.
Mancuso M, Petrozzi L, Filosto M, et al. MERRF syndrome without ragged-red fibers: The need for molecular diagnosis. Biochem Biophys Res Comm 2007;354(4):1058-60.
Marriage B, Clandinin MT, Glerum M. Nutritional cofactor treatment in mitochondrial disorders. J Am Diet Assoc 2003;103:1029-38.
Morava E, Rodenburg R, van Essen HZ, et al. Dietary intervention and oxidative phosphorylation capacity. J Inher Metab Dis 2006;29(4):589.
Morava E, van den Heuvel L, Hol F, et al. Mitochondrial disease criteria: Diagnostic applications in children. Neurology 2006:67:1823-6.
Navarro A, Broveria A. The mitochondrial energy transduction system and aging process. Am J Physiol - Cell Physiol 2007;292(2):C670-86.
Nonaka I, Koga Y, Shikura K, et al. Muscle pathology in cytochrome c oxidase deficiency. Acta Neuropathol 1988;77(2):152-60.
Peterson PL. The treatment of mitochondrial myopathies and encephalomyopathies. Biochim Biophys Acta 1995;1271(1):275.
Ponchaut S, van Hoof F, Veithc K. Cytochrome aa3 depletion is the cause of the deficient mitochondrial respiration induced by chronic valproate administration. Biochem Pharmacol 1994;43(3):644-7.
Schoenen J, Jacquy J, Lenaerts M. Effectiveness of high-dose riboflavin in migraine prophylaxis. A randomized controlled trial. Neurology 1988;50(2):466.
Sembrano E, Barthlen GM, Wallace S, Lamm C. Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP. Neurology 1997;49:1714-7.
Shoffner JM - A. Personal communication, 2001.
Shoffner JM - B. Oxidative phosphorylation diseases. In Scriver CR, Beaudet Al, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, New York, 2001. 2391-
Wallace DC. A mitochondrial paradigm for degenerative diseases and ageing. Novartis Foundation Symposium 2001;235:247-63; discussion 263-6.
Wray SH, Provenzale JM, Johns DR, Thulborn KR. MR of the brain in mitochondrial myopathy. Am J Neuroradiol 1995;16(5):1167-73.
Wyderski RJ. Treatment of migraine. New Engl J Med 2002;347(10):764.
Yasaki E, Saito Y, Nakano K, et al. Characteristics of breathing abnormality in Leigh and its overlap syndromes. Neuropediatrics 2001;32(6):299-306.
Yee AJ. Effectiveness of high-dose riboflavin in migraine prophylaxis. Neurology 1999;52(2):431.
Yamamoto M, Sato T, Anno M, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with recurrent abdominal symptoms and coenzyme Q10 administration. J Neurol, Neurosurg Psychiatry 1987;50:1475.
Ogasahara S, Yorifuji S, Nishikawa Y, et al. Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. Neurology 1985;35:372.
Ogasahara S, Nishikawa Y, Yorifuji S, et al. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 1986;36:45.
Bet L, Bresolin N, Binda A, et al. Cardiac improvement after coenzyme Q10 treatment in Kearns-Sayre syndrome. Neurology 1987;37(suppl1):202.
Bresolin N, Bet L, Binda A, et al. Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Neurology 1988;38:892.
Desnuelle C, Pellisier JF, Serratrice G, et al. Chronic progressive external ophthalmoplegia (CPEO) associated with diaphragm paralysis: Successful treatment with coenzyme Q10 (CoQ). Neurology 1988;38(suppl1):102.
Nishikawa Y, Takahashi M, Yorifuji S, et al. Long term coenzyme Q10 therapy for a mitochondrial encephalomyopathy with cytochrome c oxidase deficiency: A 31P NMR study. Neurology 1989;39:399.
Abe K, Fujimura H, Nishikawa Y, et al. Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Acta Neurol Scand 1991;83:356.
Bendahan D, Desnuelle C, Vanuxem D, et al. 31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies. Neurology 1992;42:1203.
Zierz S, Jahns G, Jerusalem F. Coenzyme Q in serum and muscle of five patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus. J Neurol 1989;236:97.
Suzuki Y, Taniyama M, Muramatzu T, et al. Diabetes mellitus associated with 3243 mitochondrial tRNA mutation: Clinical features and coenzyme Q10 treatment. Mol Aspects Med 1997;18(suppl):S181.
