Fidziańska A, Ryniewicz B, Barcikowska M, Goebel H H
Department of Neurology, Medical School, Polish Academy of Sciences, Warsaw.
J Neurol Sci. 1995 Jul;131(1):88-95. doi: 10.1016/0022-510x(95)00090-o.
In 5 children with a progressive congenital myopathy representing 3 different families, unusual histological, immunohistochemical and ultrastructural changes in skeletal muscle have been found. Histologically, this myopathy was characterized by the presence of fine hyaline plaques devoid of oxidative as well as ATPase enzyme activities. At the ultrastructural level plaques were composed of helical filaments and amorphous dense material. Helical filament storage corresponded to strong desmin as well as ubiquitin immunoreactivity. In addition they were also dystrophin positive. The exclusive appearance of desmin, ubiquitin and dystrophin positive plaques in muscle specimens from 5 children emphasize the uniqueness of these plaques as well as this special form of a congenital myopathy.
在代表3个不同家族的5名患有进行性先天性肌病的儿童中，发现骨骼肌存在不寻常的组织学、免疫组织化学和超微结构变化。组织学上，这种肌病的特征是存在缺乏氧化酶和ATP酶活性的细小透明斑块。在超微结构水平上，斑块由螺旋丝和无定形致密物质组成。螺旋丝储存对应于结蛋白以及泛素的强免疫反应性。此外，它们也呈抗肌萎缩蛋白阳性。来自5名儿童的肌肉标本中结蛋白、泛素和抗肌萎缩蛋白阳性斑块的独特出现强调了这些斑块的独特性以及这种特殊形式的先天性肌病。
