Goebel H H
Department of Neuropathology, Mainz University Medical Center, Germany.
Neuromuscul Disord. 1998 May;8(3-4):162-8. doi: 10.1016/s0960-8966(98)00022-4.
Based on morphological abnormalities, congenital myopathies can be classified into several categories: (1) enzyme histochemically abnormal appearance without structural pathology, e.g., congenital fibre type disproportion or congenital fibre type uniformity; (2) abnormally placed nuclei, e.g. myotubular and centronuclear myopathies; (3) disruption of normal intrinsic structures, largely sarcomeres, e.g. central cores and minicores; (4) abnormal inclusions within muscle fibres. Several such inclusions are derived from pre-existing structures, most notably rods or nemaline bodies. Other derivatives of Z-band material are cytoplasmic bodies and possibly related inclusions as spheroid bodies, sarcoplasmic bodies or Mallory body-like inclusions. These inclusions share accumulation of desmin, the muscle fibre-specific intermediate filament, and of other proteins, some of them physiological, but others quite abnormal. Inclusions without identified precursors are fingerprint bodies, reducing bodies, cylindrical spirals, and Zebra bodies. Experimental models and tissue culture reproduction are necessary to further clarify significance of these inclusions in congenital myopathy pathology.
根据形态学异常，先天性肌病可分为几类：（1）酶组织化学外观异常但无结构病理改变，如先天性纤维类型不均衡或先天性纤维类型均一；（2）核位置异常，如肌管型和中央核性肌病；（3）正常固有结构破坏，主要是肌节，如中央轴空和微小轴空；（4）肌纤维内有异常包涵体。几种这样的包涵体源自先前存在的结构，最显著的是杆状体或线状体。Z带物质的其他衍生物是胞质体，可能还有相关的包涵体，如球形小体、肌浆小体或类马洛里小体。这些包涵体都有结蛋白（肌纤维特异性中间丝）和其他蛋白质的积聚，其中一些是生理性的，但其他的则相当异常。未确定前体的包涵体有指纹体、还原体、圆柱形螺旋体和斑马体。需要实验模型和组织培养复制来进一步阐明这些包涵体在先天性肌病病理学中的意义。
