Mitochondrial DNA depletion in a patient with long survival.
case_report · Level V
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- Record sourced from PubMed, PMID 9781557.
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Abstract
We studied a 29-year-old woman with myopathy since childhood with evidence of mitochondrial DNA (mtDNA) depletion. Muscle biopsy sample showed cytochrome c oxidase (COX)-negative fibers. Biochemistry showed COX deficiency. Southern blot analysis showed 76% depletion of mtDNA as compared with controls. This patient's clinical course suggests that long survival is possible in some patients with mtDNA depletion.
Medical subject headings
- DNA, Mitochondrial
- Mitochondrial Myopathies
- Survivors