Mitochondrial DNA diseases: histological and cellular studies.

Abstract excerpt

Large-scale deletions and tRNA point mutations in mitochondrial DNA (mtDNA) are associated with a variety of different mitochondrial encephalomyopathies. Skeletal muscle in these patients shows a typical pathology, characterized by the focal accumulation of large numbers of morphologically and biochemically abnormal mitochondrial (ragged-red fibers). Both mtDNA deletions and tRNA point mutations impair...

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