Pathogenic variants in the NDUFA13 gene, which codes for one of the subunits of respiratory chain complex I (CI) (Figure 1), have so far been reported in 11 families and 13 patients [6,7,8] and are associated with Leigh syndrome, a progressive encephalopathy defined by symmetrical lesions of the basal ganglia, which are easily spotted with brain imaging (Leigh-like MRI brain pattern). The gene discussed is NDUFA13; the disease is Leigh syndrome.