Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
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Summary
Observations demonstrate that mtDNA heteroplasmy can occur in man and that human disease may be associated with defects of the mitochondrial genome.
- Type
- article
- Published
- 1988-02-25
- Cited by
- 1,810
- References
- 19
- OpenAlex
- https://openalex.org/W2077414996
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4248634
Keywords
Heteroplasmy, Mitochondrial DNA, Mitochondrial myopathy, Biology, Human mitochondrial genetics
References
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- Mitochondrial DNA and human evolution
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- The mitochondrial electron transport and oxidative phosphorylation system.
- Transmission genetics of mitochondria and chloroplasts.
- Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.
- Mitochondrial inheritance in a mitochondrially mediated disease.
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- Mitochondrial DNA Mutations and Pathogenesis
- Mitochondrial DNA and genetic disease
- Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.
- Small, beautiful and essential
- Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids.
- Mitochondrial DNA Is Required for Regulation of Glucose-stimulated Insulin Secretion in a Mouse Pancreatic Beta Cell Line, MIN6*
- Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
- Down Syndrome: Neuropsychological phenotype and mitochondrial DNA
- Clinical and laboratory findings in referrals for mitochondrial DNA analysis
- Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.
- The petite mutation in yeasts: 50 years on.
- Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry
- Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects
- Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
- Development of a quantitative PCR (TaqMan) assay for relative mitochondrial DNA copy number and the common mitochondrial DNA deletion in the rat
- Glutathione regulates susceptibility to oxidant-induced mitochondrial DNA damage in human lymphocytes.
- Mitochondria-related male infertility
- Mitochondrial disease: maintenance of mitochondrial genome and molecular diagnostics.
- Human retinal pigment epithelium contains two distinct species of superoxide dismutase.
- Sirtuins — novel therapeutic targets to treat age-associated diseases
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