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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

Figure 3

Western blot analysis of muscle homogenisates and fibroblast mitochondria of TTC19 patients (P) and controls (C). A. SDS-PAGE: TTC 19 protein in markedly reduced in patient 1 and absent in patients 2 and 3. There is no obvious reduction in core 1 and Rieske protein, both subunits of MRC complex III, in comparison to porin. Porin is a protein of the outer mitochondrial membrane and was used as a loading control. B: Blue Native-PAGE: There is no obvious reduction of complex III (CIII, core 2) in patients 1, 2, and 3 compared to controls. Complex II (CII, SDHA) and complex V (CV, ATP5A1) were used as loading controls.

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