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作者报导7例有进行性外眼肌麻痹、共济失调、及二尖瓣脱垂、二尖瓣反流的进行性神经肌病;男6、女1;年龄19至29岁为5例,1例39,另1例17岁为女性.全部病例发现无瞳孔运动障碍,无疾病缓解、及眼球突出,对腾喜龙试验无反应.肌电图等研究,有5例存在神经病、肌病或二者兼有,特别是神经传导速度异常,2例表现多相自发电位增多,提示为肌病.骨骼肌活检3例呈现外形参差不齐的红色纤维,1例为不均匀的先天性
The authors reported progressive neuromyopathy in 7 patients with progressive external ophthalmoplegia, ataxia, and mitral valve prolapse and mitral regurgitation; men 6 and 1; age 5 to 19, One case 39 and the other 17 cases were female.All the patients were found to have no pupil dyskinesia, no disease alleviation, and prominent eyeballs, no reaction to the Teng-Long test.Electromyogram and other studies, there are 5 cases of neuropathy, myopathy Or both, especially abnormal nerve conduction velocity, 2 cases showed multiphase spontaneous potential increase, suggesting that myopathy .Skeletal biopsy in 3 cases showed irregularly shaped red fibers, 1 case of heterogeneous congenital