Analysis of mitochondrial DNA point mutation heteroplasmy by ARMS quantitative PCR.

Abstract excerpt

Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in both the nuclear and mitochondrial genomes. Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in the heteroplasmic form. The degree of mtDNA mutation heteroplasmy (mutation load) varies among different tissues. Manifestation of clinical phenotypes depends on the mutation load in...

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