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TFEB localization in two untreated GSDII patients after 6 years of disease progression. The upper panel shows the first (I) and the second (II) biopsy of patient 6, the lower panel shows the first (I) and the second (II) biopsy of patient 7. Immunofluorescence for TFEB shows increased activation in atrophic/autophagy-incompetent fibers, which correlates with disease severity. Bar=40 μm
