Fig. 1

Identification of the TWNK variant. a Family tree in this study. The filled circles indicate affected individuals, and the open circles and boxes indicate non-affected individuals. The proband is indicated by an arrow. b Sanger sequences of the TWNK variant in the patient and a control subject. c Domain architecture of Twinkle and previously reported variants for three phenotypes: dominant progressive external ophthalmoplegia type 3 (PEOA3); recessive mitochondrial DNA depletion syndrome 7 (MTDPS7), and Perrault syndrome 5 (PRLTS5). The variant in our case is marked in red. c Conservation of protein sequence at the nine residues with variants. Mutated residues are marked in red. The variant in our case is marked in bold