An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
M KulessaI Weyer-MenkhoffL ViergutzC KornblumK G ClaeysI SchneiderU PlöckingerP YoungM BoentertS VielhaberChristian MawrinM BergmannJ WeisA ZiagakiWerner StenzelM DeschauerD NolteA HahnB SchoserAnne SchänzerPublished in: Neuropathology and applied neurobiology (2019)
Muscle morphology in LOPD patients shows a high variability with, in most cases, moderate pathology. Increased pathology is associated with more fibrosis and autophagy.