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Diseases Of The Mitochondrial DNA.

D. Wallace
Published 1992 · Biology, Medicine

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INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 175 THE HUMAN MITOCHONDRIAL DNA AND OXIDATIVE PHOSPHORYLATION 1176 Mitochondrial Biogenesis ... 1 176 Mitochondrial OXPHOS Complexes and their Synthesis 1 178 Developmental Regulation of Nuclear OXPHOS Genes 1179 Mitochondrial DNA Genetics 1 1 8 1 MITOCHONDRIAL DNA MUTATIONS AND DISEASE. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 183 Missense Mutations 1184 Biogenesis Mutations 1 1 88 Insertion-Deletion Mutations . 1 192 Copy Number Mutations 1 195 DEFECTS IN NUCLEAR-CYTOPLASMIC INTERACTIONS . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . 1 195 THE PROGRESSION OF OXPHOS DISEASES AND AGING 1 196 EVIDENCE FOR OXPHOS DEFECTS IN COMMON DEGENERATIVE DISEASES . . ... . . . . . . . . . .... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ... . . . . . 1201 METABOLIC AND GENETIC THERAPY OF OXPHOS DEFECTS 1206
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