title: Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study.
abstract: Ultrastructural analysis of the skeletal muscle in adult-onset Pompe disease revealed lysosomal and cytoplasmic glycogen storage, autophagic vacuoles and abnormal mitochondria. Significant glycogen accumulation within lysosomes causes their rupture and release of glycogen into the cytoplasm. Excess cytoplasmic glycogen could lead to damage of the structure of muscle cells including myofibrils. In consequence, parts of the sarcoplasm and damaged organelles were sequestered within membrane-limited vacuoles. We suppose that massive accumulation of autophagic vacuoles results from the inability of destroyed lysosomes to fuse with vacuoles. Autophagic vacuoles may be a prominent feature of muscle cells in adult glycogenosis type II.
authors.affiliation: Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland. lewandow@ipin.edu.pl
authors.forename: Eliza
authors.initials: E
authors.lastname: Lewandowska
authors.forename: Teresa
authors.initials: T
authors.lastname: Wierzba-Bobrowicz
authors.forename: Rafał
authors.initials: R
authors.lastname: Rola
authors.forename: Joanna
authors.initials: J
authors.lastname: Modzelewska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Stepień
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Lugowska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Pasennik
authors.forename: Danuta
authors.initials: D
authors.lastname: Ryglewicz
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D003937:Diagnosis, Differential; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000453:epidemiology / Q000473:pathology*; D006801:Humans; D008247:Lysosomes / Q000378:metabolism / Q000648:ultrastructure; D018908:Muscle Weakness / Q000175:diagnosis* / Q000473:pathology; D018482:Muscle, Skeletal / Q000648:ultrastructure*; D012720:Severity of Illness Index
chemical_list: D006003:Glycogen