Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
Abstract
Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined the frequency of ten mitochondrial point mutations in 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood samples to estimate the de novo mutation rate. mtDNA mutations were detected in 15 offspring (0.54%, 95% CI = 0.30-0.89%). Of these live births,...
Paper Details
Title
Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
Published Date
Aug 1, 2008
Volume
83
Issue
2
Pages
254 - 260
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