Open access
Jul 2026
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant
The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.
R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al.
· Neurology: Genetics · 0 citations