Abstract
We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease. © 1991 American Academy of Neurology.
Lingua originale | English |
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pagine (da-a) | 1053-1059 |
Numero di pagine | 7 |
Rivista | Neurology |
Volume | 1991; 41 |
DOI | |
Stato di pubblicazione | Pubblicato - 1991 |
Keywords
- mitochondrial DNA
- mitochondrial myopathy