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Figure 1 | Italian Journal of Pediatrics

Figure 1

From: Syndromes associated with mitochondrial DNA depletion

Figure 1

Schematic view of the mitochondrion and the genes involved in mitochondrial depletion syndromes. A “magnifying lens” view of the genes (namely, POLG and C10orf2-Twinkle) thought to be involved in the replication of mitochondrial DNA (mtDNA), those thought to be important in the metabolism of the mitochondrial deoxynucleotide (dNTP) pool (via progressive phosphorylation of deoxythymidine, deoxycytidine, deoxytadenine, and deoxiguanosine), and those involved in the tricarboxylic acid cycle and secondary OxPhos involvement.

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