Abstract
In a patient with clinical features of myoclonus epilepsy with ragged red fibers (MERRF), molecular genetic analysis of mitochondrial DNA did not show either of the two point mutations typically associated with MERRF but did show multiple deletions by Southern blot. This case further illustrates the heterogeneity observed with mtDNA mutations.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Cerebellum / pathology
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Citrate (si)-Synthase / metabolism
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DNA, Mitochondrial / genetics*
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Electron Transport Complex IV / metabolism
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Humans
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MERRF Syndrome / enzymology
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MERRF Syndrome / genetics*
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MERRF Syndrome / pathology
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Male
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Mitochondria, Muscle / enzymology
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Muscle, Skeletal / enzymology
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NADH Dehydrogenase / metabolism
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Polymorphism, Restriction Fragment Length
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Purkinje Cells / pathology
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Sequence Deletion*
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Succinate Cytochrome c Oxidoreductase / metabolism
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Succinate Dehydrogenase / metabolism
Substances
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DNA, Mitochondrial
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Succinate Cytochrome c Oxidoreductase
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Succinate Dehydrogenase
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NADH Dehydrogenase
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Electron Transport Complex IV
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Citrate (si)-Synthase