Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases.

Guido PrimianoAlessandra TorracoDaniela VerrigniAndrea SabinoEnrico Silvio BertiniRosalba CarrozzoGabriella SilvestriSerenella Servidei

Published in: Neurology. Genetics (2022)

is one of the several nuclear genes associated with mtDNA maintenance disorder and expands the spectrum of its associated phenotypes, ranging from a clinical condition defined Bloom syndrome-like disorder to canonical mitochondrial syndromes.

Keyphrases

oxidative stress
gene expression
mitochondrial dna
dna methylation
copy number