Figure 8

Analysis of muscle biopsy from a patient (D3) with atypical infantile-onset Pompe disease. Muscle fibers were stained for lysosomal marker LAMP2 (green) and autophagosomal marker LC3 (red). LAMP2/LC3 immunostaining demonstrates variability of muscle fiber involvement: fibers with autophagic accumulation (for example, top fiber in panel a) and inclusions (b), in addition to largely intact muscle fibers (c) interspersed with completely destroyed fibers (a and c). Bar: 10 μm.