Kar N C, Pearson C M
Arch Neurol. 1981 May;38(5):279-81. doi: 10.1001/archneur.1981.00510050045005.
We describe six adult patients (five men and one woman) out of 364 whose muscle biopsy specimens disclosed muscle adenylate deaminase deficiency. Two men had an associated dermatomyositis and another man had an associated progressive systemic sclerosis. Although the patients were different clinically, all complained of muscular weakness or poor exercise tolerance. The occurrence of muscle adenylate deaminase deficiency in both sexes suggests a possible autosomal mode of inheritance.
我们描述了364例患者中的6例成年患者（5名男性和1名女性），他们的肌肉活检标本显示存在肌肉腺苷酸脱氨酶缺乏症。两名男性伴有皮肌炎，另一名男性伴有进行性系统性硬化症。尽管这些患者临床症状各异，但均主诉有肌肉无力或运动耐量差。男女均出现肌肉腺苷酸脱氨酶缺乏症提示可能为常染色体遗传模式。
