Biral D, Damiani E, Margreth A, Scarpini E, Scarlato G
Neurology. 1985 Sep;35(9):1360-3. doi: 10.1212/wnl.35.9.1360.
Muscle biopsies from two sporadic cases of congenital nemaline myopathy were examined for myosin heavy chain composition. Electrophoresis of congenital nemaline myopathy (CNM) muscle myosin in SDS-5% polyacrylamide gels gave rise to a single heavy chain band, with a migration rate and antigenic properties identical to that of the adult slow form, as demonstrated by Western blot techniques and by using specific antibody. Immunofluorescent studies indicate that CNM muscle fibers, including the most severely atrophic fibers, are homogeneous with respect to myosin heavy chain composition.
对两例散发性先天性杆状体肌病患者的肌肉活检样本进行了肌球蛋白重链组成分析。先天性杆状体肌病(CNM)肌肉肌球蛋白在SDS - 5%聚丙烯酰胺凝胶中的电泳产生了一条单一的重链带,其迁移率和抗原特性与成人慢肌型相同,这通过蛋白质免疫印迹技术和使用特异性抗体得以证实。免疫荧光研究表明,CNM肌纤维,包括萎缩最严重的肌纤维,在肌球蛋白重链组成方面是均一的。