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.

Keyphrases

late onset
early onset
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
skeletal muscle
endoplasmic reticulum stress
patient reported outcomes
replacement therapy
patient reported