Abstract
A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytochrome c oxidase (COX)-negative ragged red fibers (RRFs) than in COX-positive non-RRFs. This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations.
Publication types
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Case Reports
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Comparative Study
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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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Adult
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Amino Acid Substitution
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DNA, Mitochondrial / genetics*
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Electron Transport Complex IV / analysis
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Genetic Heterogeneity
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Humans
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MERRF Syndrome / genetics*
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MERRF Syndrome / pathology
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Mitochondria / chemistry
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Muscles / chemistry
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Muscles / ultrastructure
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Mutation, Missense
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Organ Specificity
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Point Mutation
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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RNA, Transfer, Phe / genetics*
Substances
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DNA, Mitochondrial
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RNA, Transfer, Phe
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Electron Transport Complex IV