Diomedi-Camassei et al. [33] described two patients with COQ2 mutations, an infant with fatal encephalopathy and nephropathy who died at 6 months ([c.437G>A] [p437G>A]), and an 18-month-old infant with non-fatal nephropathy ([c590G>A] [pArg197His] and [c683A>G] [pAsn228Ser]). The gene discussed is COQ2; the disease is Nephropathy.