Article
Primary and secondary defects of the mitochondrial respiratory chain.
Journal of inherited metabolic disease - 1 May 2002
Schapira A H V
Abstract excerpt
Over 100 mutations of mitochondrial DNA (mtDNA) have been associated with human disease. The phenotypic manifestation of mtDNA mutations is extremely broad, from oligosymptomatic patients with isolated deafness, diabetes, ophthalmoplegia, etc., to complex encephalomyopathic disorders that may include dementia, seizures, ataxia, stroke-like episodes, etc. The genotype variants are also wide, with rearrangements...
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