Article
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.
Human mutation - 1 Feb 2008
Ballana Ester, Govea Nancy, de Cid Rafael, Garcia Cecilia, Arribas Carles, Rosell Jordi, Estivill Xavier
Abstract excerpt
Mitochondrial DNA (mtDNA) mutations are an important cause of human disease. Most mtDNA mutations are found in heteroplasmy, in which the proportion of mutant vs. wild-type species is believed to explain some of the observed high phenotypic heterogeneity. However, homoplasmic mutations also observe phenotypic heterogeneity, which may be in part due to undetected low levels of heteroplasmy. In the present report,...
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