Keywords: Muscle, Translational Studies, Longitudinal StudiesIn Pompe disease a mutation in the alpha-glucosidase gene leads to accumulation of glycogen and autophagosomes. Previously, we reported changes in diffusion in patient muscles. To identify histopathological correlations, the quantitative MRI protocol was translated to a mouse model, using DTI sequences in a monthly interval to scan the hind limb of pre-symptomatic mice. Subsequently, immunofluorescence stainings and glycogen assay were carried out to correlate glycogen accumulation and autophagic buildup with diffusion changes. No fat-infiltration was detected, while FA increases significantly compared to wildtype. Changes in diffusion parameters were correlated to autophagic buildup but did not correlate with glycogen accumulations.
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