title: Polysaccharide storage myopathy.
abstract: In a woman with a slowly progressive adult onset proximal myopathy, muscle biopsy showed storage of PAS positive material in type 1 fibers. This material consisted of a branched chain polysaccharide associated with a mucoprotein. No abnormality of glycogen-pathway enzymes was detected. This suggested that this polysaccharide accumulation occurred because the polysaccharide was laid down in a non-bioavailable form. The clinical and histochemical features in this patient and in the few similar reported cases indicate that polysaccharide storage myopathy is a distinct entity that is allied to the glycogen storage myopathies.
authors.affiliation: Department of Neurology, London Hospital, UK.
authors.forename: A J
authors.initials: AJ
authors.lastname: Thompson
authors.forename: M
authors.initials: M
authors.lastname: Swash
authors.forename: E L
authors.initials: EL
authors.lastname: Cox
authors.forename: D A
authors.initials: DA
authors.lastname: Ingram
authors.forename: A
authors.initials: A
authors.lastname: Gray
authors.forename: M S
authors.initials: MS
authors.lastname: Schwartz
mesh_terms: D004576:Electromyography; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications*; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D011134:Polysaccharides / Q000378:metabolism*; D014057:Tomography, X-Ray Computed
chemical_list: D011134:Polysaccharides