Sunohara N, Arahata K, Hoffman E P, Yamada H, Nishimiya J, Arikawa E, Kaido M, Nonaka I, Sugita H
Department of Neurology, National Center Hospital, Tokyo, Japan.
Ann Neurol. 1990 Nov;28(5):634-9. doi: 10.1002/ana.410280506.
We examined dystrophin, the protein product of the Duchenne muscular dystrophy gene, in muscle biopsy specimens from 4 male patients with quadriceps myopathy, all of whom showed a mild and slowly progressive myopathy confined to the quadriceps muscles. All 4 patients had clear abnormalities of dystrophin, and were diagnosed as having Becker muscular dystrophy by both immunofluorescence and immunoblot examinations; that is, dystrophin of an abnormal molecular mass was visualized in muscle cryosections as "patchy" or discontinuous immunostaining at the surface membrane of the muscle fibers. One patient had a brother who showed widespread myopathic changes consistent with typical Becker muscular dystrophy. We conclude that the syndrome called quadriceps myopathy includes a group of forme fruste Becker muscular dystrophy.
我们对4例股四头肌肌病男性患者的肌肉活检标本进行了检测，以研究杜氏肌营养不良基因的蛋白质产物——抗肌萎缩蛋白。所有患者均表现为局限于股四头肌的轻度、缓慢进展性肌病。所有4例患者的抗肌萎缩蛋白均有明显异常，经免疫荧光和免疫印迹检查均诊断为贝克型肌营养不良；也就是说，在肌肉冰冻切片中，异常分子量的抗肌萎缩蛋白在肌纤维表面膜处呈现为“片状”或不连续免疫染色。其中1例患者有一个兄弟，其表现出与典型贝克型肌营养不良一致的广泛肌病改变。我们得出结论，所谓的股四头肌肌病综合征包括一组贝克型肌营养不良的顿挫型。
