title: Late onset glycogen storage disease type II with reducing body-like inclusions.
abstract: Skeletal muscle tissue from 3 patients with clinical diagnosis of limb girdle muscular dystrophy revealed a vacuolar myopathy with glycogen storage and lysosomal activity. A diagnosis of late onset GSD Type II was considered. An interesting finding was the presence of round to oval eosinophilic inclusions which reduced on menadione linked a-glycerophosphate dehydrogenase (MAG). There are only two reports in the literature describing similar inclusions in late onset GSD II. We report morphological findings of this rare disorder and compare the findings with earlier two reports.
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India. gayathrin12@rediffmail.com
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.forename: T C
authors.initials: TC
authors.lastname: Yasha
authors.forename: S
authors.initials: S
authors.lastname: Vani
authors.forename: A B
authors.initials: AB
authors.lastname: Taly
authors.forename: A
authors.initials: A
authors.lastname: Nalini
authors.forename: S K
authors.initials: SK
authors.lastname: Shankar
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D035583:Rare Diseases / Q000378:metabolism / Q000473:pathology; D055815:Young Adult
chemical_list: D006003:Glycogen