Byrne E, Dennett X, Crotty B, Trounce I, Sands J M, Hawkins R, Hammond J, Anderson S, Haan E A, Pollard A
Brain. 1986 Jun;109 ( Pt 3):523-36. doi: 10.1093/brain/109.3.523.
A family is presented in which 7 members over 3 generations were affected by cardioskeletal myopathy. A vacuolar myopathy with excessive free and intralysosomal glycogen storage in skeletal and cardiac striated muscle was identified in biopsy studies. Post-mortem studies in several patients revealed changes of a congestive cardiomyopathy with myocardial fibrosis. Acid maltase, phosphorylase, debrancher and lysosomal enzyme screens, and glycolytic enzyme levels in skeletal muscle, were normal in 1 case. This is the third report of non-acid maltase deficient lysosomal glycogen storage disease and adds to previous reports with the presentation of detailed family studies, examined of ante- and post-mortem cardiac histology and reports of detailed glycolytic and lysosomal enzyme analysis. This syndrome is unusual among glycogenoses in having a dominant inheritance pattern.
本文报道了一个三代家族中有7名成员患有心脏骨骼肌病的病例。活检研究发现，该疾病为一种空泡性肌病，在骨骼肌和心肌横纹肌中存在过量的游离和溶酶体内糖原储存。对几名患者进行的尸检研究显示，存在伴有心肌纤维化的充血性心肌病改变。在1例患者中，骨骼肌中的酸性麦芽糖酶、磷酸化酶、脱支酶和溶酶体酶筛查以及糖酵解酶水平均正常。这是关于非酸性麦芽糖酶缺乏型溶酶体糖原贮积病的第三篇报道，补充了之前关于详细家族研究、生前和死后心脏组织学检查以及详细糖酵解和溶酶体酶分析报告的报道。该综合征在糖原贮积病中具有显性遗传模式，较为罕见。
