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Schematic views illustrating the subunits of mitochondrial ATPase mutated in patients of this study. ATPase consists of two functional domains, FO (dark gray) and F1 (light gray). Variant-bearing subunits are shown in red and blue colors: ε-subunit (encoded by ATP5F1E); OSCP-subunit (encoded by ATP5PO); α-subunit (encoded by ATP5F1A); and subunit c (encoded by ATP5MC3).
