Abstract
Molecular genetic studies are now bringing a new classification and new insights into already recognized mitochondrial encephalomyopathies. There are, however, numerous reports on an overlap pattern between mitochondriopathies. In addition, the link between the defect in oxidative phosphorylation (OXPHOS) in the brain and the specific neuropathological pattern is unclear. A better knowledge of nuclear mutations in mitochondriopathies and of the interactions between nuclear and mitochondrial genomes will probably allow new developments.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Biopsy
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Brain / physiopathology
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DNA, Mitochondrial / genetics
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Humans
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Leigh Disease / genetics
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Leigh Disease / physiopathology
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MELAS Syndrome / genetics
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MELAS Syndrome / physiopathology
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MERRF Syndrome / genetics
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MERRF Syndrome / physiopathology
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Mitochondrial Encephalomyopathies / genetics*
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Mitochondrial Encephalomyopathies / physiopathology
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Muscles / pathology
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Mutation / genetics
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Ophthalmoplegia, Chronic Progressive External / genetics*
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Ophthalmoplegia, Chronic Progressive External / physiopathology
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Optic Atrophies, Hereditary / genetics
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Optic Atrophies, Hereditary / physiopathology
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Oxidative Phosphorylation