Verma A, Sarkar C, Padma M V, Dhir R, Jain S, Maheshwari M C
Department of Neurology, All India Institute Of Medical Sciences, New Delhi.
J Assoc Physicians India. 1992 Sep;40(9):610-3.
Two cases of childhood muscular dystrophy are described. One of them had clinical features suggestive of Emery-Dreifuss muscular dystrophy and the other with some features of Prader-Willi syndrome, besides proximal muscle weakness. Muscle biopsy from both cases revealed a clear abnormality of dystrophin, and were diagnosed as having Duchenne muscular dystrophy (DMD) by immunofluorescence examination; that is, absent dystrophin at the membrane of the muscle fibers. The clinical spectrum of DMD-related myopathies and the importance of dystrophin testing in childhood muscular dystrophies is discussed.
本文描述了两例儿童期肌营养不良症病例。其中一例具有提示埃默里 - 德赖富斯肌营养不良症的临床特征，另一例除近端肌无力外，还具有普拉德 - 威利综合征的一些特征。两例病例的肌肉活检均显示肌营养不良蛋白明显异常，通过免疫荧光检查诊断为杜氏肌营养不良症（DMD）；也就是说，肌纤维膜上缺乏肌营养不良蛋白。本文讨论了DMD相关肌病的临床谱以及肌营养不良蛋白检测在儿童期肌营养不良症中的重要性。
