Associated Papers
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
Sitarz KS et al.
Molecular Genetics and Metabolism, 2014
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.
Bulst S et al.
Molecular Genetics and Metabolism, 2012
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