Palmucci L, Schiffer D, Monga G, Mollo F, de Marchi M
J Neurol. 1978 Apr 14;218(1):55-62. doi: 10.1007/BF00314719.
Two cases of central core disease, father and daughter, of a family with dominant autosomal inheritance, are presented, one with bilateral congenital dislocation of the hip. Muscle biopsy was performed in both cases. Oxidative enzymes evidenced only type I fibers, most of them presenting a central core and not uncommonly more than one. On electron microscopy the cores generally appeared well demarcated from the surrounding fibrils and were characterized by lack of mitochondria and abnormalities of the Z line. Transitional aspects from normal fibers to completely unstructured cores were observed, as well as from well structured and unstructured cores. These findings are discussed in the light of the previous literature and particular attention is paid to the problem of differentiation between central core and multicore disease. The pathogenesis of the muscular alteration is also discussed in relation with the possibility of their neurogenic origin. Eventually, the histochemical and ultrastructural similarities between central cores and target fibers are focused.
本文报告了一个常染色体显性遗传家族中的两例中央轴空病患者，为父女二人，其中一例患有双侧先天性髋关节脱位。对两人均进行了肌肉活检。氧化酶仅显示出I型纤维，其中大多数呈现中央轴空，且不止一个轴空的情况并不少见。电镜下，轴空通常与周围肌原纤维界限清晰，其特征是缺乏线粒体和Z线异常。观察到从正常纤维到完全无结构轴空的过渡形态，以及从结构良好和无结构轴空之间的过渡形态。结合以往文献对这些发现进行了讨论，并特别关注中央轴空病和多核病的鉴别问题。还讨论了肌肉改变的发病机制与神经源性起源可能性的关系。最后，重点关注了中央轴空和靶纤维之间的组织化学和超微结构相似性。
