Danon M J, Karpati G, Charuk J, Holland P
Department of Neurology, University of Illinois College of Medicine, Chicago 60612.
Neurology. 1988 May;38(5):812-5. doi: 10.1212/wnl.38.5.812.
We report a family in which four members in two generations (mother, her son, and two daughters) suffered from impaired muscle relaxation aggravated by exercise. Muscle biopsies from two sisters showed moderate degree of histochemical type 2 fiber atrophy and excess of internal nuclei. Microscopic immunocytochemistry, using a monoclonal antibody raised against purified chicken SR-ATPase, revealed severe reduction of the immunoreactive ATPase of SR was markedly decreased on Western blots of muscle proteins. This family appears to have a clinically, electromyographically, and biochemically distinct metabolic myopathy associated with deficiency of SR-ATPase, with a probable autosomal dominant inheritance pattern that is phenotypically similar to recently described recessive cases.
我们报告了一个家族，其中两代的四名成员（母亲、她的儿子和两个女儿）患有运动后加重的肌肉松弛受损。两名姐妹的肌肉活检显示中度组织化学2型纤维萎缩和核内物质过多。使用针对纯化鸡SR-ATP酶产生的单克隆抗体进行的显微免疫细胞化学显示，肌浆网免疫反应性ATP酶严重减少，在肌肉蛋白的Western印迹上明显降低。这个家族似乎有一种在临床、肌电图和生化方面都不同的代谢性肌病，与肌浆网ATP酶缺乏有关，可能具有常染色体显性遗传模式，其表型与最近描述的隐性病例相似。
