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cge12228-sup-0001-FigureS1.pptxPowerPoint 2007 presentation1396KFig. S1. Histologal and histochemical studies of livers and skeletal muscle of the patients with c.191C>G MPV17 mutation. (a) Muscle biopsy from Patient 4 (at 7 months) shows severe lipid accumulation consistent with a lipid storage myopathy, Oil red O, ×100 original magnification. (b) Liver section from Patient 1 shows severe microvesicular steatosis, hepatocyte damage, necrosis (30%), and fibrosis with early nodular transformation, Oil red O, ×200 original magnification. (c) Post-mortem examination of liver of Patient 1 revealed severe microvesicular steatosis (90%), hepatocyte damage and degeneration, no evident necrosis (10–20%) or cholestasis, and moderate fibrosis with early nodular transformation, H and E, ×200 original magnification. (d) A core needle biopsy of Patient 3 showed severe microvesicular steatosis (80%), hepatocyte damage and degeneration, no evident necrosis (30%) or cholestasis, and mild periportal fibrosis. PAS staining, ×400 original magnification.
cge12228-sup-0002-FigureS2.pptxPowerPoint 2007 presentation10275KFig. S2. Ultrastructural findings in MPV17 deficiency. Muscle of Patient 4: (a) Muscle cells with dispersed and accumulated LBs. ×9000 magnification. (b) Lipid body with dense granular cap (arrow). ×60,000 magnification. (c) Affected nucleus occupied by altered mitochondria and a large number of LBs. ×22,000 magnification. Liver of Patient 3: (d) Accumulated LBs. ×9000 magnification. (e) Two enlarged mitochondria with electron dense matrix and unstructured cristae consisting vesicle like structures. ×80,000 magnification. (f) Large lipid-like droplets within mitochondrial matrix (asterix). ×60,000 magnification.

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