Mitochondrial diseases

Neurologic Clinics

Volumn 20, Issue 3, 2002, Pages 809-839

  Vu, Tuan H ^a   Hirano, Michio ^a   DiMauro, Salvatore ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

CITRIC ACID CYCLE; DNA REPLICATION; GENE DELETION; GENETIC LINKAGE; HUMAN; MITOCHONDRIAL GENETICS; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW;

ADULT; BIOPSY; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETIC MARKERS; HUMANS; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0036699976     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0733-8619(01)00017-2     Document Type: Review

References (145)

1. Holt IJ, Harding AE, Morgan Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-7193.
2. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
3. Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromusc Disord 2000;10:X-XIV.
4. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
5. Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. New Engl J Med 1999;341:1037-44.
6. DiMauro S. Exercise intolerance and the mitochondrial respiratory chain. It J Neurol Sci 1999;20:387-93.
7. McShane MA, Hammons SR, Sweeney M, et al. Peason syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991;48:39-42.
8. Chinnery PF, Johnson MA, Wardell TM, et al. Epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000;48:188-93.
9. Darin N, Oldfors A, Moslemi A-R, et al. The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001;49:377-83.
10. Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population. Am J Hum Genet 1998;63:447-54.
11. Moras CT, Ciacci F, Silvestri G, et al. A typical clinical presentations associated with the MELAs mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993;43-50.
12. Engel WK, Cunnigham CG. Rapid examination of muscle tissue: An improved trichome stain method for fresh-frozen biopsy sections. Neurology 1963;13:919-23.
13. Goto Y, Tojo M, Tohyama J, et al. A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy. Ann Neurol 1992;31:672-5.
14. Leu(UUR) gene associated with familial myopathy. J Neurol Sci 1999;164:153-7.
15. Ogle RF, Christodoulou J, Fagan E, et al. Mitochondrial myopathy with tRNA-Leu(UUR) mutation and complex I deficiency responsive to riboflavin. J Pediatr 1997;130:138-45.
16. Moraes CT, Ciacci F, Bonilla E, et al. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet 1993;4:284-8.
17. Met gene mutation in a patient with dystrophic muscle and exercise intolerance. Neurology 1998;50:1875-8.
18. Weber K, Wilson JN, Taylor L, et al. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet 1997;60:373-80.
19. El-Schahawi M, Lopez de Munain A, Sarrazin AM, et al. Two large Spanish pedigrees with nonsyndromic deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: Evidence of heteroplasmy. Neurology 1997;48:453-6.
20. Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993;4:289-93.
21. Thyagarajan D, Bressman S, Bruno C, et al. A novel mitochondrial 12S rRNA point mutation in Parkinsonism, deafness and neuropathy. Ann Neurol 2000;48:730-6.
22. Santorelli FM, Tanji K, Manta P, et al. Maternally inherited cardiomyopathy: An atypical clinical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999;64:295-300.
23. Shoffner JM, Brown MD, Huoponen K, et al. A mitochondrial DNA mutation associated with maternally inherited deafness and Parkinson's disease. Neurology 1996;46:A331.
24. Huoponen K, Vilkki J, Aula P, et al. A new mtDNA mutation associated with Leber hereditary optic neuroretinc pathy. Am J Hum Genet 1991;48:1147-53.
25. Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Comm 1992;187:1551-7.
26. Holt IJ, Harding AE, Petty RK, Morgan Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-33.
27. Keightley JA, Anitori R, Burton MD, et al. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 2000;67:400-10.
28. Dumoulin R, Sagnol I, Ferlin T, et al. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes 1996;10:389-91.
29. De Coo IFM, Renier WO, Ruitenbeek W, et al. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome. Ann Neurol 1999;45:130-3.
30. Andreu AL, Checcarelli N, Iwata S, et al. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res 2000;48:311-4.
31. Zeviani M, Corona P, Nijtmans L, Tiranti V. Nuclear genes defects in mitochondrial disorders. It J Neurol Sci 2000;20:401-8.
32. Andreu AL, Tanji K, Bruno C, et al. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 1999;45:820-3.
33. Bet L, Bresolin N, Moggio M, et al. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. J Neurol 1990;237:399-404.
34. Musumeci O, Andreu AL, Shanske S, et al. Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy. Am J Hum Genet 2000;66:1900-4.
35. Keightley JA, Hoffbuhr KC, Burton MD, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1996;12:410-5.
36. Karadimas CL, Greenstein P, Sue CM, et al. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mtDNA. Neurology 2000;55:644-9.
37. DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome. Ann Neurol 1996;40:5-7.
38. van den 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.
39. Loeffen J, Smeitink J, Triepels R, et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998;63:1598-608.
40. Schuelke M, Smeitink J, Mariman E, et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 1999;21:260-1.
41. Triepels RH, van den Heuvel LP, Loeffen JLCM, et al. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol 1999;45:787-90.
42. 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.
43. Parfait B, Chretien D, Rotig A, et al. Compound heterozygous mutation in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet 2000;106:236-43.
44. de Lonlay P, Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001;29:57-60.
45. Adams PL, Lightowlers RN, Turnbull DN. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 1997;41:268-70.
46. DiMauro S, Hirano M, Bonilla E, et al. Cytochrome oxidase deficiency: progress and problems. In: Schapira AHV, DiMauro S, editors. Cytochrome oxidase deficiency: progress and problems. Oxford: Butterworth-Heinemann, 1994; p. 91-115.
47. Tzagoloff A, Akai A, Needleman RB. Assembly of mitochondrial membrane system. Characterization of nuclear mutants of Saccharomyces cerevisiae with defects in mitochondrial ATPase and respiratory enzymes. J Biol Chem 1975;250:8228-35.
48. Petruzzella V, Tiranti V, Fernandez P, et al. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 1998;54:494-504.
49. Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998;20:337-43.
50. Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998;63:1609-21.
51. Sue CM, Karadimas C, Checcarelli N, et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 2000;47:589-95.
52. Papadopoulou LC, Sue CM, Davidson MM, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999;23:333-7.
53. Jaksch M, Ogilvie I, Yao J, et al. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet 2000;9:795-801.
54. Jaksch M, Horvath R, Horn N, et al. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 2001;57:1440-6.
55. Valnot I, von Kleist-Retzow J-C, Barrientos A, et al. A mutation in the human heme-A: farnesyltransferase gene (COX 10) causes cytochrome c oxidase deficiency. Hum Mol Genet 2000;9:1245-9.
56. Valnot I, Osmond S, Gigarel N, et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 2000;67:1104-9.
57. Horvath R, Lochmuller H, Stucka R, et al. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochem Biophys Res Comm 2000;276:530-2.
58. Sue CM, Schon EA. Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start? Brain Pathol 2000;10:442-50.
59. Moraes CT, Shanske S, Tritschler HJ, et al. MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48:492-501.
60. Macmillan CJ, Shoubridge EA. Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation. Pediatr Neurol 1996;14:203-10.
61. Hirano M, Vu TH. Defects of intergenomic communication: Where do we stand? Brain Pathol 2000;10:451-461.
62. Naviaux RK, Nyhan WL, Barshop BA, et al. Mitochondrial DNA polymerase deficiency and mtDNA depletion in a child with Alper's syndrome. Ann Neurol 1999;45:54-8.
63. Vu TH, Tanji K, Holve SA, et al. Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome? Hepatology 2001;34:116-20.
64. Horvath R, Fu K, Johns T, et al. Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. J Neuropath Exp Neurol 1998;57(5):396-403.
65. Arnaudo E, Dalakas M, Shanske S, et al. Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 1991;337:508-10.
66. Church J, Mitchell W, Gonzalez-Gomez I, et al. Mitochondrial DNA depletion, nearfatal metabolic acidosis and liver failure in an HIV-infected child treated with combination antiretroviral therapy. J Pediatr 2001;138:748-51.
67. Vu TH, Sciacco M, Tanji K, et al. Clinical manifestations of mitochondrial DNA depletion. Neurology 1998;50:1783-90.
68. Maaswinkel-Mooij PD, Van den Bogert C, Scholte HR, et al. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 1996;128:679-83.
69. Mariotta C, Uziel G, Carrana F, et al. Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological biochemical and molecular genetic study 1995;242:547-56.
70. Taanman JW, Bodnar AG, Cooper JM, et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Gen 1997;6(6):935-42.
71. Di Mauro S, Boilla E, De Vivo DC. Does the patient have a mitochondrial encephalomyopathy. J Child Neurol 1999;14(Suppl 1):S23-5.
72. Petty RKH, Harding AE. Morgan-Hughes: The clinical features of mitochondrial myopathy. Brain 1986;109:915-38.
73. Bakker HD, Scholte HR, Dingemans KP, et al. Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 1996;128:683-7.
74. Morris AAM, Taanman JW, Blake J, et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol 1998;28:556-63.
75. Saada A, Shaag A, Mandel H, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29(3):342-4.
76. Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29(3):337-41.
77. Carrozzo R, Hirano M, Fromenty B, et al. Multiple mitochondrial DNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 1998;50:99-106.
78. Bohlega S, Tanji K, Santorelli FM, et al. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996;46:1329-34.
79. Fadic R, Russell JA, Vedanarayanan W, et al. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology 1997;49:239-45.
80. van Domberg PH, Gabreels-Festen AA, Gabreels FJ, et al. Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. Brain 1996;119:997-1010.
81. Hirano M, Silvestri G, Blake D, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-7.
82. Hirano M, Garcia-de-Yebenes J, Jones AC, et al. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 1998;63:526-33.
83. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
84. Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000;289:782-5.
85. Nishino I, Spinazzola A, Papadimitriou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;47:792-800.
86. Spinazzola A, Marti R, Nishino I, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002;277:4128-33.
87. Zeviani M, Servidei S, Gellera C, et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-11.
88. Servidei S, Zeviani M, Manfredi G, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991;41:1053-9.
89. Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992;90:61-6.
90. Kaukonen J, Zeviani M, Comi GP, et al. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 1999;65:256-61.
91. Suomalainen A, Kaukonen J, Amati P, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995;9:146-51.
92. Li FY, Tariq M, Croxen R, et al. Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. Neurology 1999;53:1265-71.
93. Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external opththalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-2.
94. Spelbrink JN, Li FY, Tiranti V, et al, Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001;28:223-31.
95. Robinson BH. Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase). In Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 1995, p. 1479-99.
96. Allen RJ, DiMauro S, Coulter DL, et al. Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate. Ann Neurol 1983;13:679-82.
97. Dubeau F, De Stefano N, Zifkin BG, et al. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu (UUR) A3243G mutation in a MELAS pedigree. Ann Neurol 2000;47:179-85.
98. Bank W, Park J, Lech G, et al. Near-infrared spectroscopy in the diagnosis of mitochondrial disorders. Biofactors 1998;7:243-5.
99. Argov Z, Bank WJ. Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders. Ann Neurol 1991;30:90-7.
100. Hasegawa H, Matsuoka T, Goto I, Nonaka I. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 1991;29:601-5.
101. Mita S, Schmidt B, Schon EA, et al. Detection of "deleted" mitochondrial genomes in cytochrome-c-oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci USA 1989;86:9509-13.
102. Leu(UUR) gene an etiologic hot spot? J Clin Invest 1993;92:2906-15.
103. DiMauro S, Andreu AL. Mutations in mtDNA: Are we scraping the bottom of the barrel? Brain Pathol 2000;10:431-41.
104. Manfredi G, Schon EA, Moraes CT, et al. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromusc Disord 1995;5:391-8.
105. Santorelli FM, Tanji K, Kulikova R, et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Comm 1997;238:326-8.
106. DiMauro S, Hirano M. Mitochondria and heart disease. Curr Opin Cardiol 1998;13:190-7.
107. Ser(UCN) gene. Neurology 1999;52:1905-8.
108. Calabresi PA, Silvestri G, DiMauro S, Griggs RC. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve 1994;17:943-5.
109. Casali C, Fabrizi GM, Santorelli FM, et al. Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family. Neurology 1999;52:1103-4.
110. Holme E, Larsson NG, Oldfors A, et al. Multiple symmetric lipomas with high levels of mtDNA with the tRNALys A > G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 1993;52:551-6.
111. Mazziotta MRM, Ricci E, Bertini E, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992;121:896-901.
112. Tein I, DiMauro S, Xie Z-W, et al. Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for pathogenesis of valproic acid-associated carnitine deficiency. Pediat Res 1993;34:281-7.
113. Sue CM, Lipsett LJ, Crimmins DS, et al. Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 1998;43:350-9.
114. Tranchant C, Mousson B, Mohr M, et al. Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion. Neuromusc Disord 1993;3:561-6.
115. De Vivo DC, DiMauro S. Mitochondrial diseases. In: Swaiman KF, Ashwal S, editors. Mitochondrial diseases. St Louis: Mosby, 1999;1:494-509.
116. Stacpoole PW. The pharmacology of dichloroacetate. Metabolism 1989;38:1124-44.
117. De Stefano N, Matthews PM, Ford B, et al. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 1995;45:1193-8.
118. De Vivo DC, Jackson A, Wade C, et al. Dichloroacetate treatment of MELAS-associated lactic acidosis. Ann Neurol 1990;28:437.
119. Saitoh S, Momoi MY, Yamagata T, et al. Effects of dichloroacetate in three patients with MELAS. Neurology 1998;50:531-4.
120. Kuroda Y, Ito M, Naito E, et al. Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome. J Pediatr 1997;131:450-2.
121. Burlina AB, Milanesi O, Biban P, et al. Beneficial effect of sodium dichloroacetate in muscle cytochrome c oxidase deficiency. Eur J Pediat 1993;152:537.
122. 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. Proc Natl Acad Sci USA 1984;81:3529-33.
123. Reichman H, Rohkann R, Zevani M, et al. Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration. Arch Neurol 1986;43:957-61.
124. Matsuoka T, Maeda H, Goto Y, Nonaka I. Muscle coenzyme Q10 in mitochondrial encephalomyopathies. Neuromusc Disord 1992;1:443-7.
125. Tarnopolsky MA, Roy BD, MacDonald JR. A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve 1997;20:1502-9.
126. Manfredi G, Beal MF. The role of mitochondria in the pathogenesis of neurodegenerative diseases. Brain Pathol 2000;10:462-72.
127. Abe K, Matsuo Y, Kadekawa J, Inoue S, Yanagihara T. Effect of coenzyme Q10 in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): Evaluation by noninvasive tissue oximetry. J Neurol Sci 1999;162:65-8.
128. 31P-NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies. Neurology 1992;42:1203-8.
129. Bresolin N, Bet L, Binda A, et al. Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Neurology 1988;38:892-9.
130. Chan A, Reichmann H, Kogel A, et al. Metabolic changes in patients with mitochondrial myopathies and effects of coenzyme Q10 therapy. J Neurol 1998;245:681-5.
131. Delanty N, Dichter MA. Antioxidant therapy in neurologic disease. Arch Neurol 2000;57:1265-70.
132. Ihara Y, Namba R, Kuroda S, et al. Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone. J Neurol Sci 1989;90:263-71.
133. Ikejiri Y, Mori E, Ishii K, et al. Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS. Neurology 1996;47:583-5.
134. Ogasahara S, Nishikawa Y, Yorifuji S, et al. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 1986;36:45-53.
135. Yamamoto M, Sato T, Anno M, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration. J Neurol Neurosurg Psychiat 1987;50:1475-81.
136. Murphy MP, Smith RAJ. Drug delivery to mitochondria: the key to mitochondrial medicine. Adv Drug Deliv Rev 2000;41:235-50.
137. DiMauro S, Bonilla E, Lee CP, et al. Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case. J Neurol Sci 1976;27:217-32.
138. Haydar NA, Conn HL, Afifi A, et al. Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria. Ann Int Med 1971;74:548-58.
139. Clark KM, Bindoff LA, Lightowlers RN, et al. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997;16:222-4.
140. Fu K, Hartlen R, Johns T, et al. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet 1996;5:1835-40.
141. Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye 1999;13:769-772.
142. Taivassalo T, Fu K, Johns T, et al. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet 1999;8:1047-52.
143. Rubenstein DS, Thomasma DC, Schon EA, Zinaman MJ. Germ-line therapy to cure mitochondrial disease: Protocol and ethics of in vitro ovum nuclear transplantation. Cambridge Quart Healthcare Eth 1995;4:316-39.
144. White SL, Shanske S, McGill JJ, et al. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation. J Inter Metab Dis 1999;22:899-914.
145. White SL, Shanske S, Biros I, et al. Two cases of prenatal analysis for the pathogenic substitution at nucleotide 8993 in mitochondrial DNA. Prenatal Diagn 1999;19:1165-8.