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...