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Inborn and induced defects of mitochondria Schapira AHArch Neurol 1998[Oct]; 55 (10): 1293-6Mitochondria play a pivotal role in cellular metabolism and in energy production in particular. Predictably, defects of mitochondrial metabolism have a deleterious effect on cell function and survival, especially in highly energy-dependent tissues such as brain and skeletal muscle. Although a multitude of biochemical reactions occur within mitochondria, the oxidative phosphorylation (OXPHOS) system is the most important in terms of adenosine triphosphate generation and in its association with human disease.|DNA, Mitochondrial/*genetics/*metabolism[MESH]|Electron Transport/genetics[MESH]|Humans[MESH]|Metabolism, Inborn Errors/*diagnosis[MESH]|Mitochondria/*metabolism[MESH]|Mitochondrial Encephalomyopathies/complications/*genetics[MESH]|Neurodegenerative Diseases/etiology[MESH]|Oxidative Phosphorylation[MESH] |
