case_images: PMC4130626_01
case_images: A m.10134C>A Leigh syndrome mutation.. (A) Family pedigree with the LS patient annotated as a filled black circle. (B) T2 supra-orbital MRI of the proband showing symmetrical bilateral cystic gliosis within the globus pallidus (orange arrows). (C) Graphical depiction of the mitochondrial genome, annotated with the MT-ND3 LS mutation identified in this study (bottom left, highlighted with an asterisk) and three previously described mutations (see text for references). (D) Western blot analysis of Complex I components, where CF and PF denote to control and patient fibroblasts), CM and PM denote control and patient muscle biopsy samples, and CL and PL denote control and patient liver biopsy samples. These data show a reduction of Complex I (CoI) protein levels in muscle, but no significant reduction in liver, consistent with the results shown in Table 2. We also observed elevated Complex II (CoII) in patient fibroblasts and muscle, Complex III (CoIII) in patient fibroblasts and liver, and Complex IV (CoIV) in patient liver, suggesting compensatory mitochondrial proliferation.
case_images: pone.0104879.g001.jpg
case_images: PMC4130626_01_pone.0104879.g001.jpg
case_images: pone-0104879-g001
case_images: The proband, a girl, is the youngest of four healthy children born to unrelated and clinically unremarkable Australian parents (Figure 1A).