A Case of Congenital Neuromuscular Disease with Uniform Type I Fibers, Abnormal Mitochondrial Network and Jagged Z-Line
A Case of Congenital Neuromuscular Disease with Uniform Type I Fibers, Abnormal Mitochondrial Network and Jagged Z-Line
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具有均匀 I 型纤维、异常线粒体网络和锯齿状 Z 线的先天性神经肌肉疾病一例
DOI：
10.1055/s-2008-1059533
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发表时间：
1985
期刊：
影响因子：
1.4
通讯作者：
C. Minetti
中科院分区：
文献类型：
--
作者：
G. Pellegrini;S. Barbieri;M. Moggio;A. Cheldi;G. Scarlato;C. Minetti
1例先天性神经肌肉病的肌肉活检组织学、组织化学和超微结构研究显示，肌纤维均匀，均为I型，直径较小，Z线参差不齐，线粒体横向网络异常发达。肌电图检查显示为肌病模式，但线粒体改变与报道的线粒体肌病有很大不同，锯齿状Z线与Z线流动似乎不太相关，出现在失神经萎缩、靶纤维、核心样病变或线状肌病的其他Z线异常中。另一方面，I型组织化学一致性似乎更可能与控制纤维类型分化和其他营养影响的神经机制的某些功能障碍有关。这也表明，肌源性肌电模式实际上可能是假性肌病，这是由于组成运动单位的单个肌肉纤维的横截面积减少所致。
Histological, histochemical and ultrastructural studies of muscle biopsy in a case of congenital neuromuscular disease revealed unusual findings consisting of muscle fibers uniformity which were all type I and of small diameter, jagged Z-line and abnormally developed transverse network of mitochondria. E.M.G. examination demonstrated a myopathic pattern, but mitochondrial changes are quite different from those reported in mitochondrial myopathies and jagged Z-line seems poorly correlated with Z-line streaming present in denervation atrophy, target fibers, core-like lesions or other Z-line abnormalities of the nemaline myopathy. On the other hand type I histochemical uniformity seems more likely related to some dysfunction of the neuronal mechanisms that control both the fiber type differentiation and other trophic influences. It also suggests that myogenic E.M.G. pattern might actually be pseudo-myopathic and due to a reduction of the cross sectional area of the individual muscle fibers composing the motor unit.