Higuchi I, Fukunaga H, Usuki F, Moritoyo T, Osame M
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima, Japan.
Pediatr Neurol. 1992 Jul-Aug;8(4):310-2. doi: 10.1016/0887-8994(92)90373-7.
We report a patient with X-linked muscular dystrophy who had rapidly progressive muscle weakness and became wheelchair-bound at age 10 years. Clinically, he was diagnosed as having Duchenne muscular dystrophy; however, he was diagnosed as having Becker muscular dystrophy by dystrophin tests using a C-terminal monoclonal antibody. No immunolabelling was observed with a monoclonal antibody against the N-terminal domain. Multiplex polymerase chain reaction analysis revealed the deletion of exons 3-19. The data suggest that the deletion of the N-terminal domain of dystrophin can cause a severe phenotype even when the C-terminus of the protein is well preserved.
我们报告了一名患有X连锁肌营养不良的患者，该患者肌肉无力进展迅速，10岁时就需要依靠轮椅行动。临床上，他被诊断为杜氏肌营养不良；然而，使用C端单克隆抗体进行的肌营养不良蛋白检测显示，他被诊断为贝克型肌营养不良。针对N端结构域的单克隆抗体未观察到免疫标记。多重聚合酶链反应分析显示外显子3-19缺失。数据表明，即使肌营养不良蛋白的C端保存完好，其N端结构域的缺失也可能导致严重的表型。
