Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834652 | Molecular Genetics and Metabolism | 2007 | 4 Pages |
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.
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Authors
M. Hoeksma, W.F.A. den Dunnen, K.E. Niezen-Koning, O.P. van Diggelen, F.J. van Spronsen,