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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 Schänzer
Published 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.
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