Article
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
Neuropathology and applied neurobiology - 1 Oct 2007
Schoser B G H, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W
Abstract excerpt
The need for clinical awareness and diagnostic precision of glycogen storage disease type 2 (GSD2) has increased, as enzyme replacement therapy has become available. So far, only small series have reported the muscle pathology of late-onset GSD2. We reassessed 43 muscle biopsies of 38 GSD2 patients. In all patients the diagnosis of GSD2 has been established by biochemistry and/or mutational analysis of the GAA...
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