Tomkins J K, Collins S P, Baker W D, Kidman A D
J Neurol Sci. 1982 Apr;54(1):59-68. doi: 10.1016/0022-510x(82)90218-0.
Skeletal muscle of Duchenne muscular dystrophy (DMD) patients, DMD carriers and of patients with other neuromuscular diseases was sampled at diagnostic muscle biopsy. The incorporation of isotopic precursors into protein and RNA in a 1-hour in vitro incubation of these samples was then determined. Individual DMD results overlap with these obtained with normal muscle, and an inverse relationship is observed between DMD patient age and incorporation into skeletal muscle protein. The protein and RNA incorporation of DMD carrier skeletal muscle was normal. Limb-girdle dystrophy shows an increase in protein incorporation, while nemaline myopathy, dystrophia myotonica and polymyositis show increases in both protein and RNA incorporation over normal skeletal muscle. The significance of the incorporation observed in the neuromuscular disorders studied in discussed.
在诊断性肌肉活检时，采集了杜氏肌营养不良症（DMD）患者、DMD携带者以及其他神经肌肉疾病患者的骨骼肌样本。然后测定了这些样本在1小时体外孵育过程中同位素前体掺入蛋白质和RNA的情况。DMD患者的个体结果与正常肌肉的结果重叠，并且观察到DMD患者年龄与骨骼肌蛋白质掺入之间呈负相关。DMD携带者骨骼肌的蛋白质和RNA掺入正常。肢带型肌营养不良症显示蛋白质掺入增加，而杆状体肌病、强直性肌营养不良症和多发性肌炎显示蛋白质和RNA掺入均高于正常骨骼肌。文中讨论了在所研究的神经肌肉疾病中观察到的掺入情况的意义。
