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The Mitochondrial Genome and Human Mitochondrial Diseases

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Abstract

To date, more than 100 point mutations and several hundreds of structural rearrangements of mitochondrial DNA (mtDNA) are known too be connected with characteristic neuromuscular and other mitochondrial syndromes varying form those causing death at the neonatal stage to diseases with late ages of onset. The immediate cause of mitochondrial disorders is a defective oxidative phosphorylation. Wide phenotypic variation and the heteroplasmy phenomenon, which some authors include in mutation load, are characteristic of human mitochondrial diseases. As the numbers of cases identified and pedigrees described increase, data on the genotype–phenotype interaction and the structure and frequency of pathogenic and conditionally pathogenic mtDNA mutations in human populations are rapidly accumulated. The data on the genetics and epidemiology of mitochondrial diseases are not only important for differential diagnosis and genetic counseling. Since both neutral and mildly pathogenic mutations of mtDNA are progressively accumulated in maternal phyletic lines, molecular analysis of these mutations permits not only reconstruction of the genealogical tree of modern humans, but also estimation of the role that these mutations play in natural selection.

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REFERENCES

  1. Wallace, D.C., Brown, M.D., and Lott, M.T., Mitochondrial DNA Variation in Human Evolution and Disease, Gene, 1999, vol. 238, pp. 211-230.

    Google Scholar 

  2. Ingman, M., Kaessmann, H., Paabo, S., and Gyllensten, U., Mitochondrial Genome Variation and the Origin of Modern Humans, Nature, 2001, vol. 408, pp. 708-713.

    Google Scholar 

  3. Elson, J.L., Andrews, R.M., Chinnery, P.F., et al., Analysis of European mtDNA for Recombination, Am. J. Hum. Genet., 2001, vol. 68, pp. 145-153.

    Google Scholar 

  4. Korf, B.R., Mitochondrial Inheritance, Human Genetics: A Problem-Based Approach, Korf, B.R., Ed., Boston: Blackwell Scientific, 1996, pp. 238-259.

    Google Scholar 

  5. Hanna, M.G. and Nelson, I.P., Genetics and Molecular Pathogenesis of Mitochondrial Respiratory Chain Diseases, Cell. Mol. Life Sci., 1999, vol. 55, pp. 691-706.

    Google Scholar 

  6. Wallace, D.C., Singh, G., Lott, M.T., et al., Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy, Science, 1988, vol. 242, pp. 1427-1430.

    Google Scholar 

  7. Wallace, D.C., Zheng, X.X., Lott, M.T., et al., Familial Mitochondrial Encephalomyopathy (MERRF): Genetic, Pathophysiological, and Biochemical Characterization of a Mitochondrial DNA Disease, Cell (Cambridge, Mass.), 1988, vol. 55, pp. 601-610.

    Google Scholar 

  8. Goto, Y., Koga, Y., Horai, S., and Nonaka, I., Chronic Progressive External Ophthalmoplegia: A Correlative Study of Mitochondrial DNA Deletions and Their Phenotypic Expression in Muscle Biopsies, J. Neurol. Sci., 1990, vol. 100, pp. 63-69.

    Google Scholar 

  9. van den Ouweland, J.M., Lemkes, H.H., Ruitenbeek, W., et al., Mutation in Mitochondrial tRNA(Leu)(UUR) Gene in a Large Pedigree with Maternally Transmitted Type II Diabetes Mellitus and Deafness, Nat. Genet., 1992, vol. 1, pp. 368-371.

    Google Scholar 

  10. Shoffner, J.M. and Wallace, D.C., Oxidative Phosphorylation Diseases and Mitochondrial DNA Mutations: Diagnosis and Treatment, Annu. Rev. Nutr., 1994, vol. 14, pp. 535-568.

    Google Scholar 

  11. Gerbitz, K.D., van den Ouweland, J.M., Maassen, J.A., and Jaksch, M., Mitochondrial Diabetes Mellitus: A Review, Biochim. Biophys. Acta, 1995, vol. 1271, pp. 253-260.

    Google Scholar 

  12. Schon, T.A., Bonilla, T., and DiMauro, S., Mitochondrial DNA Mutations and Pathogenesis, J. Bioenerg. Biomembr., 1997, vol. 29, pp. 131-149.

    Google Scholar 

  13. Wallace, D.C., Mitochondrial Diseases in Man and Mouse, Science, 1999, vol. 283, pp. 1482-1488.

    Google Scholar 

  14. Wallace, D.C., Lott, M.T., Brown, M.D., and Kerstann, K., Mitochondria and Neuroophthalmologic Diseases, The Metabolic and Molecular Basis of Inherited Disease, Scriver, C.R., Beavdet, A.L., and Valle, D., Eds., New York: McGraw–Hill, 2001, vol. 2, pp. 2425-2512.

    Google Scholar 

  15. Chinnery, P.F., Johnson, M.A., Wardell, T.M., et al., The Epidemiology of Pathogenic Mitochondrial DNA Mutations, Ann. Neurol., 2000, vol. 48, pp. 188-193.

    Google Scholar 

  16. Fischel-Chodsian, N., Mitochondrial Mutations and Hearing Loss: Paradigm for Mitochondrial Genetics, Am. J. Hum. Genet., 1998, vol. 62, pp. 15-19.

    Google Scholar 

  17. Lightowlers, R.N., Chinnery, P.F., Turnbull, D.M., and Howell, N., Mammalian Mitochondrial Genetics: Heredity, Heteroplasmy and Disease, Trends. Genet., 1997, vol. 13, pp. 450-455.

    Google Scholar 

  18. Jenuth, J.P., Peterson, A.C., Fu, K., and Shoubridge, E.A., Random Genetic Drift in the Female Germline Explains the Rapid Segregation of Mammalian Mitochondrial DNA, Nat. Genet., 1996, vol. 14, pp. 146-151.

    Google Scholar 

  19. Brown, D.T., Samuels, D.C., Michael, E.M., et al., Random Genetic Drift Determines the Level of Mutant mtDNA in Human Primary Oocytes, Am. J. Hum. Genet., 2001, vol. 68, pp. 533-536.

    Google Scholar 

  20. Howell, N., Kubacka, I., and Mackey, D.A., How Rapidly Does the Human Mitochondrial Genome Evolve?, Am. J. Hum. Genet., 1996, vol. 59, pp. 501-509.

    Google Scholar 

  21. Anderson, S., Bankier, A.T., Barrell, B.G., et al., Sequence and Organization of the Human Mitochondrial Genome, Nature, 1981, vol. 290, pp. 457-465.

    Google Scholar 

  22. Larsson, N.-G. and Clayton, D.F., Molecular Genetic Aspects of Human Mitochondrial Disorders, Annu. Rev. Genet., 1995, vol. 29, pp. 151-178.

    Google Scholar 

  23. Kogelnik, A.M., Lott, M.T., Brown, M.D., et al., MITO-MAP: A Human Mitochondrial Genome Database—1998 Update, Nucleic Acids Res., 1998, vol. 26, pp. 112-115.

    Google Scholar 

  24. Saraste, M., Oxidative Phosphorylation at the Fin De Siecle, Science, 1999, vol. 283, pp. 1488-1493.

    Google Scholar 

  25. Robinson, B.H., Human Complex I Deficiency: Clinical Spectrum and Involvement of Oxygen Free Radicals in the Pathogenicity of the Defect, Biochem. Biophys. Acta, 1998, vol. 1364, pp. 271-286.

    Google Scholar 

  26. Zullo, S., Sieu, L.C., Slightom, J.L., et al., Mitochondrial D-Loop Sequences Are Integrated in the Rat Nuclear Genome, J. Mol. Biol., 1991, vol. 221, pp. 1223-1235.

    Google Scholar 

  27. Zishler, H., Geisert, H., Von Haeseler, A., and Paabo, S., A Nuclear “Fossil” of the Mitochondrial D-Loop and the Origin of Modern Humans, Nature, 1995, vol. 378, pp. 489-492.

    Google Scholar 

  28. Green, D.R. and Reed, J.C., Mitochondria and Apoptosis, Science, 1998, vol. 281, pp. 1309-1316.

    Google Scholar 

  29. Kaneda, H., Hayashi, J., Takahama, S., et al., Elimination of Paternal Mitochondrial DNA in Intraspecific Crosses during Early Mouse Embryogenesis, Proc. Natl. Acad. Sci. USA, 1995, vol. 92, pp. 4542-4546.

    Google Scholar 

  30. Attardi, G., Yoneda, M., and Chomin, A., Complementation and Segregation Behavior of Disease Causing Mitochondrial DNA Mutations in Cellular Model Systems, Biochem. Biophys. Acta, 1995, vol. 1271, pp. 241-248.

    Google Scholar 

  31. Chinnery, P.F., Thorburn, D.R., Samuels, D.C., et al., The Inheritance of mtDNA Heteroplasmy: Random Drift, Selection, or Both?, Trends Genet., 2000, vol. 16, pp. 500-505.

    Google Scholar 

  32. Chinnery, P.F., Howell, N., Lightowlers, R.N., and Turnbull, D.M., MELAS and MERRF: The Relationship between Maternal Mutation Load and the Frequency of Clinically Affected Offspring, Brain, 1998, vol. 121, pp. 1889-1894.

    Google Scholar 

  33. Carelli, V., Ghelli, A., Ratta, M., et al., Leber's Hereditary Optic Neuropathy: Biochemical Effect of 11 778/ND4 and 3460/ND1 Mutations and Correlations with the Mitochondrial Genotype, Neurology, 1997, vol. 48, pp. 1623-1632.

    Google Scholar 

  34. Howell, N., Xu, M., Halvorson, S., et al., A Heteroplasmic LHON Family: Tissue Distribution and Transmission of the 11 778 Mutation, Am. J. Hum. Genet., 1994, vol. 55, pp. 203-206.

    Google Scholar 

  35. Nachman, M.W., Brown, W.M., Stoneking, M., and Aquadro, C.F., Nonneutral Mitochondrial DNA Variation in Humans and Chimpanzees, Genetics, 1996, vol. 142, pp. 953-963.

    Google Scholar 

  36. Krakauer, D.C. and Mira, M., Mitochondria and Germ-Cell Death, Nature, 1999, vol. 400, pp. 125-126.

    Google Scholar 

  37. Moilanen, J.S. and Majamaa, K., Relative Fitness of Carriers of the Mitochondrial DNA Mutation 3243A > G, Eur. J. Hum. Genet., 2001, vol. 9, pp. 59-62.

    Google Scholar 

  38. Hart, L.M., Jansen, J.J., Lemkes, H.H., et al., Heteroplasmy Level of a Mitochondrial Gene Mutation Associated with Diabetes Mellitus Decrease in Leukocyte DNA upon Aging, Hum. Mutat., 1996, vol. 7, pp. 193-197.

    Google Scholar 

  39. Jackson, M.J., Schaefer, J.A., Johnson, M.A., et al., Presentation and Clinical Investigation of Mitochondrial Respiratory Chain Disease: A Study of 51 Patients, Brain, 1995, vol. 118, pp. 339-357.

    Google Scholar 

  40. Kaufmann, P., Koga, Y., Shanske, S., et al., Mitochondrial DNA and RNA Processing in MELAS, Ann. Neurol., 1996, vol. 40, pp. 172-180.

    Google Scholar 

  41. Yanagisawa, K., Uchigata, Y., Sanaka, M., et al., Mutation in the Mitochondrial tRNA(Leu) at Position 3243 and Spontaneous Abortions in Japanese Women Attending a Clinic for Diabetic Pregnancies, Diabetologia, 1995, vol. 38, pp. 809-815.

    Google Scholar 

  42. Weber, K., Wilson, J.N., Taylor, L., et al., A New mtDNA Mutation Showing Accumulation with Time and Restriction to Skeletal Muscle, Am. J. Hum. Genet., 1997, vol. 60, pp. 373-380.

    Google Scholar 

  43. Chinnery, P.F. and Samuels, D.S., Relaxed Replication of mtDNA: A Model with Implications for the Expression of Disease, Am. J. Hum. Genet., 1999, vol. 64, pp. 1158-1165.

    Google Scholar 

  44. Elson, J.L., Samuels, D.S., Turnbull, D.M., and Chinnery, P.F., Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age, Am. J. Hum. Genet., 2001, vol. 68, pp. 802-806.

    Google Scholar 

  45. Taivassalo, T., Fu, K., Johns, T., et al., Gene Shifting: A Novel Therapy for Mitochondrial Myopathy, Hum. Mol. Genet., 1999, vol. 8, pp. 1047-1052.

    Google Scholar 

  46. Manfredi, G., Gupta, N., Vazquez-Memije, M.E., et al., Oligomycin Induces a Decrease in the Cellular Content of a Pathogenic Mutation in the Human Mitochondrial ATPase 6 Gene, J. Biol. Chem., 1999, vol. 247, pp. 9386-9391.

    Google Scholar 

  47. Taylor, R.W., Wardell, T.M., Lightowlers, R.N., and Turnbull, D.M., Molecular Basis for Treatment of Mitochondrial Myopathies, Neurol. Sci., 2000, vol. 21, pp. S909-S912.

    Google Scholar 

  48. Temin, P.A., Nikanorova, M.Yu., and Sukhorukov, V.S., Myoclonus Epilepsy with Disrupted Red Muscular Fibers: Clinical Polymorphism and Problems of Diagnostics and Treatment, Ros. Vestn. Perinatol. Pediatr., 1996, vol. 4, pp. 35-41.

    Google Scholar 

  49. Temin, P.A., Nikanorova, M.Yu., and Nikolaeva, E.A., The Syndrome MELAS (Mitochondrial Encephalomyopathy, Lactate Acidosis, Insult-like Episodes): Major Signs, Diagnostic Criteria, Possibilities of Treatment, Nevrol. Zh., 1998, no. 2, pp. 43-48.

  50. Krasnopol'skaya, K.D., Hereditary Mitochondrial Diseases: Methodical Approaches to Diagnostics and Treatment: Information Letter, Byul. O–va Med. Genet., 1997, no. 1, pp. 9-18.

  51. Knyazev, Yu.A., Krasnopol'skaya, K.D., Mytnikova, E.I., and Petrukhin, A.S., Mitochondrial Diseases, Vestn. Ross. Akad. Med. Nauk, 2000, no. 7, pp. 46-50.

  52. Howell, N., Kubacka, I., Halvorson, S., and Mackey, D., Leber's Hereditary Optic Neuropathy: The Etiological Role of a Mutation in the Mitochondrial Cytochrome B Gene, Genetics, 1993, vol. 133, pp. 133-136.

    Google Scholar 

  53. Riordan-Eva, P., Sanders, M.D., Govan, G.G., et al., The Clinical Features of Leber's Hereditary Optic Neuropathy Defined by the Presence of a Pathogenic Mitochondrial DNA Mutation, Brain, 1995, vol. 118, pp. 319-337.

    Google Scholar 

  54. Mackey, D.A., Oostra, R.J., Rosenberg, T., et al., Primary Pathogenic mtDNA Mutations in Multigeneration Pedigrees with Leber Hereditary Optic Neuropathy, Am. J. Hum. Genet., 1996, vol. 59, pp. 481-485.

    Google Scholar 

  55. Howell, N., Bogolin, C., Jamieson, R., et al., mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?, Am. J. Hum. Genet., 1998, vol. 62, pp. 196-201.

    Google Scholar 

  56. Thieme, H., Wissinger, B., Jandeck, C., et al., A Pedigree of Leber's Hereditary Optic Neuropathy with Visual Loss in Childhood, Primarily in Girls, Graefes Arch. Clin. Exp. Ophthalmol., 1999, vol. 237, pp. 714-719.

    Google Scholar 

  57. Mashima, Y., Hiida, Y., Oguchi, Y., et al., High Frequency of Mutations at Position 11 778 in Mitochondrial ND4 Gene in Japanese Families with Leber's Hereditary Optic Neuropathy, Hum. Genet., 1993, vol. 92, pp. 101-102.

    Google Scholar 

  58. Jun, A.S., Brown, M.D., and Wallace, D.C., A Mitochondrial DNA Mutation at Np 14 459 of the ND6 Gene Associated with Maternally Inherited Leber's Hereditary Optic Neuropathy and Dystonia, Proc. Natl. Acad. Sci. USA, 1994, vol. 91, pp. 6206-6210.

    Google Scholar 

  59. Chinnery, P.F., Brown, D.T., Andrews, R.M., et al., The Mitochondrial ND6 Gene Is a Hot Spot for Mutations That Cause Leber's Hereditary Optic Neuropathy, Brain, 2001, vol. 124, pp. 209-218.

    Google Scholar 

  60. Brown, M.D., Zhadanov, S.I., Allen, J.C., et al., Novel mtDNA Mutations and Oxidative Phosphorylation Dysfunction in Russian LHON Families, Hum. Genet., 2001, vol. 109, pp. 33-39.

    Google Scholar 

  61. Brown, M.D., Starikovskaya, E.B., Derbeneva, O.A., et al., A New Primary Mutation Associated with Caucasoid Haplogroup J, Hum. Genet., 2002 (in press).

  62. Brown, M.D., Torroni, A., Reckord, C.L., and Wallace, D.C., Phylogenetic Analysis of Leber's Hereditary Optic Neuropathy Mitochondrial DNAs Indicates Multiple Independent Occurrences of the Common Mutations, Hum. Mutat., 1995, vol. 6, pp. 311-325.

    Google Scholar 

  63. Estivill, X., Govea, N., Barcelo, A., et al., Familial Progressive Sensoneural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides, Am. J. Hum. Genet., 1998, vol. 62, pp. 27-35.

    Google Scholar 

  64. Jaber, L., Shohat, M., Bu, X., et al., Sensorineural Deafness Inherited as a Tissue-Specific Mitochondrial Disorder, J. Med. Genet., 1992, vol. 29, pp. 86-90.

    Google Scholar 

  65. Prezant, T.R., Agapian, J.V., Bohlman, M.C., et al., Mitochondrial Ribosomal RNA Mutation Associated with Both Antibiotic-Induced and Non-Syndromic Deafness, Nat. Genet., 1993, vol. 4, pp. 289-294.

    Google Scholar 

  66. Mathis, G., Claes, S., Longo-Mbenza, B., and Cassiman, J.-J., Non-Syndromic Deafness Associated with a Mutation and a Polymorphism in the Mitochondrial 12S Ribosomal RNA Gene in a Large Zairian Pedigree, Eur. J. Hum. Genet., 1996, vol. 4, pp. 46-51.

    Google Scholar 

  67. El-Schahawi, M., Lopez de Munain, A., Sarrazin, A.M., et al., Two Large Spanish Pedigrees with Non-Syndromic Sensoneural Deafness and the mtDNA Mutation at Np 1555 in the 12S rRNA Gene: Evidence of Heteroplasmy, Neurology, 1997, vol. 48, pp. 453-456.

    Google Scholar 

  68. Olsson, C., Zethelius, B., Lagerstrom-Fermer, M., et al., Level of Heteroplasmy for the Mitochondrial Mutation A3243G Correlates with Age at Onset of Diabetes and Deafness, Hum. Mutat., 1998, vol. 12, pp. 52-58.

    Google Scholar 

  69. White, S.L., Collins, V.R., Wolfe, R., et al., Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993, Am. J. Hum. Genet., 1999, vol. 65, pp. 474-482.

    Google Scholar 

  70. Poulton, J. and Brown, G.K., Investigation of Mitochondrial Disease, Arch. Dis. Child, 1993, vol. 73, pp. 94-97.

    Google Scholar 

  71. Poulton, J., O'Rahilly, S., Morten, K.J., and Clark, A., Mitochondrial DNA, Diabetes and Pancreatic Pathology in Kearns-Sayre Syndrome, Diabetologia, 1995, vol. 38, pp. 868-871.

    Google Scholar 

  72. Ballinger, S.W., Shoffner, J.M., Hedaya, E.V., et al., Maternally Transmitted Diabetes and Deafness Associated with a 10.4 kb Mitochondrial DNA Deletion, Nat. Genet., 1992, vol. 1, pp. 11-15.

    Google Scholar 

  73. Ballinger, S.W., Shoffner, J.M., Gebhart, S., et al., Mitochondrial Diabetes Revisited, Nat. Genet., 1994, vol. 7, pp. 458-459.

    Google Scholar 

  74. Lestienne, P. and Ponsot, G., Kearns-Sayre Syndrome with Muscle Mitochondrial DNA Deletion, Lancet, 1988, no. 1, p. 885.

  75. Zeviani, M., Moraes, C.T., DiMauro, S., et al., Deletions of Mitochondrial DNA in Kearns-Sayre Syndrome, Neurology, 1988, vol. 38, pp. 1339-1346.

    Google Scholar 

  76. Melov, S., Shoffner, J.M., Kaufman, A., and Wallace, D.C., Marked Increase in the Number and Variety of Mitochondrial DNA Rearrangement in Aging Human Skeletal Muscle, Nucleic Acids Res., 1995, vol. 23, pp. 4122-4126.

    Google Scholar 

  77. Lui, V.W., Zhang, C., and Nagley, P., Mutations in Mitochondrial DNA Accumulate Differentially in Three Tissues during Aging, Nucleic Acids Res., 1998, vol. 26, pp. 1268-1275.

    Google Scholar 

  78. Kubota, N., Hayashy, J., and Iwamura, Y., Induction of a Particular Deletion in Mitochondrial DNA by X-Rays Depends on the Inherent Radiosensitivity of the Cells, Radiat. Res., 1997, vol. 148, pp. 395-398.

    Google Scholar 

  79. Nishino, I., Spinazzola, A., and Hirano, M., Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder, Science, 1999, vol. 283, pp. 689-692.

    Google Scholar 

  80. Kaukonen, J., Juselius, J.K., Tiranti, V., et al., Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance, Science, 2000, vol. 289, pp. 782-785.

    Google Scholar 

  81. Morgan-Hughes, J.A. and Hanna, M.G., Mitochondrial Encephalomyopathies: The Enigma of Genotype versus Phenotype, Biochem. Biophys. Acta, 1999, vol. 1410, pp. 125-145.

    Google Scholar 

  82. Hedges, S.B., Human Evolution: A Start for Population Genomics, Nature, 2001, vol. 408, pp. 652-653.

    Google Scholar 

  83. Lodi, R., Montagna, P., Cortelli, P., et al., “Secondary” 4216/ND1 and 13708/ND5 Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutations Do Not Further Impair In vivo Mitochondrial Oxidative Metabolism When Associated with the 11778/ND4 Mitochondrial DNA Mutation, Brain, 2000, vol. 123, pp. 1896-1902.

    Google Scholar 

  84. Torroni, A., Petrozzi, M., D'Urbano, L., et al., Haplotype and Phylogenetic Analyses Suggest That One European-Specific mtDNA Background Plays a Role in the Expression of Leber Hereditary Optic Neuropathy by Increasing the Penetrance of the Primary Mutations 11778 and 14484, Am. J. Hum. Genet., 1997, vol. 60, pp. 1107-1121.

    Google Scholar 

  85. Sukernik, R.I., Starikovskaya, E.B., Torroni, A., et al., Diffusion of Neutral and Deleterious Mitochondrial Genes throughout Siberia: Implications for the History and Nature of Human Evolution, in Biodiversity and Dynamics of Ecosystems in North Eurasia, Novosibirsk: Inst. Tsitol. Genet., 2000, pp. 182-183.

    Google Scholar 

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Authors and Affiliations

  1. Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk, 630090, Russia

    R. I. Sukernik, O. A. Derbeneva, E. B. Starikovskaya & N. V. Volodko

  2. Intersectorial Scientific and Technical Complex “Ocular Microsurgery” (Novosibirsk Branch), Novosibirsk, 630071, Russia

    I. E. Mikhailovskaya & I. Yu. Bychkov

  3. Center for Molecular Medicine, Emory University, Atlanta, 30322, United States

    M. Lott, M. Brown & D. Wallace

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  1. R. I. Sukernik
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Sukernik, R.I., Derbeneva, O.A., Starikovskaya, E.B. et al. The Mitochondrial Genome and Human Mitochondrial Diseases. Russian Journal of Genetics 38, 105–113 (2002). https://doi.org/10.1023/A:1014369624346

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