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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doi.org/10.1016/j.ymgme.2007.04.012, hdl.handle.net/1765/36615
Molecular Genetics and Metabolism
Erasmus MC: University Medical Center Rotterdam

Hoeksma, M., den Dunnen, W., van Diggelen, O., Niezen-Koning, K. E., & van Spronsen, F. J. (2007). Muscular glycogen storage diseases without increased glycogen content on histopathological examination. Molecular Genetics and Metabolism, 91(4), 370–373. doi:10.1016/j.ymgme.2007.04.012