PRPF6 and autosomal dominant progressive external ophthalmoplegia: Finally, we found that Slc25a4 p.A114P,A123D/+ mice phenocopy ANT1-induced autosomal dominant progressive external opthalmoplegia (adPEO) patients, as Slc25a4 p.A114P,A123D/+ mice exhibit mild OXPHOS defects, partially COX-deficient myofibers, moderate myofiber atrophy, and muscle weakness (Kaukonen et al., 1999; Komaki et al., 2002).