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C. Domínguez-González

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Open access Sep 2026

Spatial transcriptomics reveals early and progressive molecular changes in late-onset Pompe disease muscle

Late-onset Pompe disease (LOPD) is caused by acid alpha-glucosidase deficiency, leading to lysosomal glycogen accumulation and progressive muscle pathology. Muscle biopsies show marked fibre heterogeneity, including non-vacuolated and vacuolated fibres. This study aimed to define transcriptomic alterations across the...

Alexandra Monceau, E. Gallardo, A. Hernández-Laín et al. · 0 citations

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