Article
mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.
Clinical genetics - 1 Nov 2015
Steffann J, Monnot S, Bonnefont J-P
Abstract excerpt
Mitochondria are the largest generator of ATP in the cell. It is therefore expected that energy-requiring processes such as oocyte maturation, early embryonic or fetal development, would be adversely impacted in case of mitochondrial deficiency. Human mitochondrial DNA (mtDNA) mutations constitute a spontaneous model of mitochondrial failure and offer the opportunity to study the consequences of energetic defects...
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