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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Biopsy
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Blotting, Southern
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Cytochrome-c Oxidase Deficiency
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DNA, Mitochondrial / analysis
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DNA, Mitochondrial / metabolism*
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Female
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Humans
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Mitochondrial Myopathies / genetics
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Mitochondrial Myopathies / metabolism*
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Mitochondrial Myopathies / mortality
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Muscle, Skeletal / enzymology
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Muscle, Skeletal / pathology
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Succinate Dehydrogenase / metabolism
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Survivors*
Substances
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DNA, Mitochondrial
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Succinate Dehydrogenase