[The correlation of the heteroplasmy of mtDNA and clinicopathological findings in the patients with mitochondrial encephalomyopathies].

Abstract excerpt

In most cases of the mitochondrial encephalomyopathies, the mutations of mtDNA usually appear in heteroplasmic states. The degree of mtDNA heteroplasmy has been suggested to play an important role in determining the clinical phenotype and the organ-specific defects. We had devised a novel method for quantitative analysis of heteroplasmy using PCR-SSCP, this method is useful to accurately quantitate heteroplasmy...

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