【摘要】 报告1例糖原贮积病Ⅱ型患者。患者为26岁男性，青年期表现为四肢骨骼肌萎缩无力及心肌受累，肌酶、肌电图、下肢磁共振及肌肉病理活检提示肌炎改变，外周血淋巴细胞滤纸片酶学检查显示酸性α-葡萄糖苷酶（acid alpha glucosidase, GAA）活性部分缺乏，最终检测GAA基因确诊为糖原贮积病Ⅱ型，基因变异c.-32-13T>G和c.1551+2T>G分别来自母亲、父亲。分析该患者发病特点，可认识并积累关于糖原贮积病Ⅱ型病例资料，加深对罕见的常染色体隐性遗传病理解。更多还原

【Abstract】 A case of glycogen accumulation disease type Ⅱ was reported. The patient was a 26-year-old male who presented with skeletal muscle atrophy and weakness of limbs and myocardial involvement in his youth. Laboratory and pathological data including creatine kinase, electromyography, nuclear magnetic resonance of lower limbs and muscle pathological biopsy suggested myositis changes. Enzymatic examination of peripheral blood lymphocyte filter paper showed deficiency of acid alpha glucosidase(GAA) activity. Genetic testing of GAA gene confirmed glycogen accumulation disease type Ⅱ. Genetic variation c-32-13T>G and c. 1551+2T>G came from mother and father, respectively. Analyzing the characteristics of the patient could recognize and accumulate more data about glycogen accumulation disease type Ⅱ, in order to increase the understanding of the rare autosomal recessive genetic disease.更多还原