POLG human pathological mutations, associated syndromes, mip1 equivalent mutations analyzed in this study and phenotypes of mip1 mutant strains.

NT: not tested.ND: not detectable.1The mutation is slightly dominant in yeast, where the petite frequency in heterozygosis is approximately 1.5-fold compared to the wild type. In humans, the equivalent mutation has been associated either to sporadic PEO when it is in trans with mutation R579W, suggesting a recessive trait [80] and to PEO with tremor and peripheral neuropathy when it is in cis with E1143G SNP and in trans with wt POLG, suggesting a dominant trait [81].