Clinical phenotype (Table 3) was consistent with CPEO in 33 patients (5 CPEO, 25 CPEO plus and 3 KSS), MELAS in 6, ADOA in 1, other MM in 6 patients (a young patient with MICU1 gene mutation and other unspecified MM in 5 cases) (Table 4). The gene discussed is MICU1; the disease is Kearns-Sayre syndrome.