Myong N H, Suh Y L, Chi J G, Hwang Y S
Department of Pathology, Seoul National University, Korea.
J Korean Med Sci. 1993 Jun;8(3):235-40. doi: 10.3346/jkms.1993.8.3.235.
Central core disease is a rare congenital myopathy characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.
中央轴空病是一种罕见的先天性肌病，其特征是在肌纤维内形成由肌原纤维异常排列组成的“轴空”。我们报告一名5岁韩国女孩，其表现出相当典型的非进行性肌无力临床病程。电诊断研究显示肌电图为低波幅多相波，神经传导速度正常。腓肠肌活检显示苏木精-伊红（H&E）切片上超过80%的纤维有中央轴空。组织化学显示轴空内线粒体酶缺乏或缺失，且以I型为主。超微结构显示，在一根纤维中可单独或同时发现有结构和无结构的轴空。该病例是韩国文献中的首例报道。
