Article
Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing.
PloS one - 20 Aug 2010
Zaragoza Michael V, Fass Joseph, Diegoli Marta, Lin Dawei, Arbustini Eloisa
Abstract excerpt
Mutations in mitochondrial DNA (mtDNA) may cause maternally-inherited cardiomyopathy and heart failure. In homoplasmy all mtDNA copies contain the mutation. In heteroplasmy there is a mixture of normal and mutant copies of mtDNA. The clinical phenotype of an affected individual depends on the type of genetic defect and the ratios of mutant and normal mtDNA in affected tissues. We aimed at determining the...
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