Hoeksma M, den Dunnen W F A, Niezen-Koning K E, van Diggelen O P, van Spronsen F J
Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, P.O. Box 3001, 7900 RB Groningen, The Netherlands.
Mol Genet Metab. 2007 Aug;91(4):370-3. doi: 10.1016/j.ymgme.2007.04.012. Epub 2007 May 30.
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.
本文展示了五名患有两种不同类型肌肉糖原贮积病（mGSD）患者的肌肉活检组织病理学结果。从这些研究中发现，mGSD的组织病理学诊断阳性率较低。在五名患者中只有一名患者的组织病理学结果为诊断提供了线索。可以得出结论，肌肉活检的非特异性结果甚至正常外观并不能排除mGSD。
