Few families have been reported to have disease due to variants in POLG2. The first reported case of POLG2 disease was documented in a patient with adult‐onset autosomal dominant PEO in whom multiple mtDNA deletions were detected.2 The second identified case of POLG2 disease was a patient who developed ptosis at age 30, but not ophthalmoplegia, and proximal and distal myopathy in her late forties. Here, POLG2 is linked to ophthalmoplegia.