Fig. 2.

Patients have reduced levels of complex IV, reduced levels of complex IV subunits, and mutations in PET117. a Blue native electrophoreses and western blot analysis of the patient cell lines compared to three different control cell lines. Blots were probed for complex I (NDUFA9), complex II (SDHA), complex III (UQCRC2), and complex IV (COX-IV). b SDS-PAGE separation of fibroblast extracts of the two patient cell lines compared to four different control cell lines. Western blots were probed for complex IV subunits, COX-I, COX-II, and COX-IV. Antisera against CII (SDHA) and Porin were used as loading controls. c Sanger sequencing of DNA of the patients as well as the parents confirmed the presence of the c.172C>T mutation. FW forward sequence, REV reverse sequence