Stefan H, Böker D K, Müller J, Gullotta F
Dtsch Med Wochenschr. 1977 Oct 21;102(42):1512-4. doi: 10.1055/s-0028-1105529.
In a 46-year-old woman with progressive atypical limb-girdle dystrophy for eight years the electromyogram revealed a myopathic pattern with signs of denervation activity. Enzymehistochemical and biochemical investigations of muscle and liver biopsies indicated type II glycogen storage disease (Pompe's disease). This type, with its prolonged course and the almost exclusive clinical involvement of proximal muscles mimics a "degenerative" neuromuscular disease, particularly muscle dystrophy, in the adult. Caused by acid maltase deficiency it is not a rare disease.
一名46岁女性，患有进行性非典型肢带型肌营养不良8年，肌电图显示为肌病模式并伴有失神经活动迹象。对肌肉和肝脏活检进行的酶组织化学和生化检查表明为II型糖原贮积病（庞贝病）。这种类型病程较长，且几乎仅累及近端肌肉，在成人中酷似“退行性”神经肌肉疾病，尤其是肌肉营养不良。它由酸性麦芽糖酶缺乏引起，并非罕见疾病。
