POLG and Dysarthria: The variant c.452T>C in POLG has only been reported to be responsible for sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (OMIM 607459) (Li et al., 2021), a disorder with some overlapping phenotypes with MTDPS4A from which the proband G060-1 suffered; this variant was then interpreted to be LP (PM2 + PM3 + PP3 + PP4) according to the ACMG guidelines.