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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
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Mitochondrial Disorders Caused by Nuclear Genes (Hardcover, 2013 ed.)
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Mitochondrial Disorders Caused by Nuclear Genes (Hardcover, 2013 ed.)
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Mitochondrial cytopathies are mutations in the inherited maternal
mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial
respiratory chain disorders (RCD) are a group of genetically and
clinically heterogeneous diseases, due to the fact that protein
components of the respiratory chain are encoded by both
mitochondrial and nuclear genomes and are essential in all cells.
In addition, the biogenesis, structure and function of
mitochondria, including DNA replication, transcription, and
translation, all require nuclear encoded genes. Since mitochondria
are present in every cell, every tissue, mitochondrial disorder
usually affects multiple organs.
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