title: A mild adult myopathic variant of type IV glycogenosis.
abstract: Type IV glycogenosis is usually a rapidly progressive disease of early childhood, causing death before 4 years of age. It is characterized by hepatosplenomegaly, cirrhosis, and chronic hepatic failure. Muscle involvement is generally overshadowed by liver disease. A mild non-infantile variant of type IV glycogenosis has been described in a few patients. In some of them, the patients suffered foremost from chronic progressive myopathy. We here report on a female patient aged 51 years who had experienced difficulties in climbing stairs for 2 years due to leg weakness. EMG revealed a myopathic pattern. The muscle biopsy findings revealed polyglycosan bodies. Biochemical investigation showed absence of branching enzyme in muscle but not in leukocytes and fibroblasts.
authors.affiliation: Division of Neuropathology, University of Mainz, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Bornemann
authors.forename: R
authors.initials: R
authors.lastname: Besser
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D000328:Adult; D003593:Cytoplasm / Q000648:ultrastructure; D005260:Female; D006011:Glycogen Storage Disease Type IV / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000648:ultrastructure