Two patients in this study harbored the variant NM_001126131.2:c.1550G>T yielding p.Gly517Val and two patients harbored the variant NM_001126131.2:c.2492A>G yielding p.Tyr831Cys that was previously reported in patients with Parkinsonism or ophthalmoplegia, belonging to the phenotypic spectrum of POLG [42]. This evidence concerns the gene POLG and ophthalmoplegia.