Hobbs A S, Brumback R A, Festoff B W
J Neurol Sci. 1979 May;41(3):299-306. doi: 10.1016/0022-510x(79)90090-x.
Myotonic dystrophy is a dominantly-inherited disorder which affects skeletal muscle in combination with several other systems. Because of abnormalities in red blood cells, a universal membrane defect has been proposed as the primary disturbance. Erythrocyte cation pump ratios have also been reported to be abnormal. Hyperinsulinemia and glucose intolerance are present in a large number of patients. Since dramatic effects of insulin on membrane cation transport have been shown in several tissues, notably skeletal muscle, we wished first to confirm reports of altered pump ratio in these patients and then to evaluate the effects of insulin on cation fluxes. However, in our experiments myotonic dystrophy patients had normal pump ratios when compared with disease controls.
强直性肌营养不良是一种常染色体显性遗传病，会影响骨骼肌以及其他多个系统。由于红细胞存在异常，有人提出普遍的膜缺陷是主要病因。也有报道称红细胞阳离子泵比率异常。大量患者存在高胰岛素血症和葡萄糖不耐受。由于已经在多个组织（尤其是骨骼肌）中证实胰岛素对膜阳离子转运有显著影响，我们首先希望确认这些患者泵比率改变的报道，然后评估胰岛素对阳离子通量的影响。然而，在我们的实验中，与疾病对照组相比，强直性肌营养不良患者的泵比率正常。
