Article
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
Human mutation - 1 Jan 2011
Monnot Sophie, Gigarel Nadine, Samuels David C, Burlet Philippe, Hesters Laetitia, Frydman Nelly, Frydman René, Kerbrat Violaine, Funalot Benoit, Martinovic Jelena, Benachi Alexandra, Feingold Josué, Munnich Arnold, Bonnefont Jean-Paul, Steffann Julie
Abstract excerpt
Mitochondrial DNA (mtDNA) mutations cause a wide range of serious diseases with high transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate ("mutant load") accounts for the wide phenotypic spectrum observed in carriers. Owing to the absence of therapy, couples at risk to transmit such disorders commonly ask for prenatal (PND) or preimplantation diagnosis (PGD). The lack of data...
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