Patel K, Voit T, Dunn M J, Strong P N, Dubowitz V
Jerry Lewis Muscle Research Centre, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, U.K.
J Neurol Sci. 1988 Nov;87(2-3):315-26. doi: 10.1016/0022-510x(88)90256-0.
Skeletal muscle from patients with 5 different forms of muscular dystrophy and from 6 fetuses at high risk (95%) for Duchenne muscular dystrophy (DMD) were probed with specific antibodies for the presence of dystrophin and nebulin. Dystrophin was absent in all 5 patients with DMD and 4 of 6 fetuses at high risk for DMD and present in trace amounts in the remaining two. Dystrophin was also undetectable in one borderline DMD/Becker muscular dystrophy (BMD) case and reduced in 2 of 4 cases of BMD. In contrast, dystrophin was present in all 16 biopsies from 4 other types of muscular dystrophy (congenital, limb girdle, Emery-Dreifuss and facioscapulohumeral). Nebulin profiles varied with the type, severity and duration of the dystrophic process. Nebulin was present in 5 of 6 DMD fetal samples but vastly reduced or absent in all samples of clinically manifest DMD.
用抗肌萎缩蛋白和伴肌动蛋白的特异性抗体检测了5种不同形式肌营养不良患者以及6例患杜氏肌营养不良（DMD）高风险（95%）胎儿的骨骼肌。所有5例DMD患者以及6例DMD高风险胎儿中的4例均未检测到抗肌萎缩蛋白，其余2例有微量抗肌萎缩蛋白。在1例边缘性DMD/贝克型肌营养不良（BMD）病例中也未检测到抗肌萎缩蛋白，4例BMD病例中的2例抗肌萎缩蛋白减少。相比之下，在其他4种类型肌营养不良（先天性、肢带型、埃默里 - 德赖富斯型和面肩肱型）的16份活检样本中均检测到抗肌萎缩蛋白。伴肌动蛋白的情况因肌营养不良过程的类型、严重程度和持续时间而异。6例DMD胎儿样本中有5例存在伴肌动蛋白，但在所有临床确诊的DMD样本中均大幅减少或缺失。
