title: Muscular glycogen storage diseases without increased glycogen content on histopathological examination.
abstract: Histopathological findings of muscle biopsies from five patients with two different muscular glycogen storage diseases (mGSD) were presented. From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue towards diagnosis. It can be concluded that non-specific findings or even normal appearance of a muscle biopsy does not exclude mGSD.
authors.affiliation: Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, P.O. Box 3001, 7900 RB Groningen, The Netherlands. m.hoeksma@bkk.umcg.nl
authors.forename: M
authors.initials: M
authors.lastname: Hoeksma
authors.forename: W F A
authors.initials: WF
authors.lastname: den Dunnen
authors.forename: K E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D002648:Child; D002675:Child, Preschool; D006003:Glycogen / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure
chemical_list: D006003:Glycogen