Pellegrini G, Barbieri S, Moggio M, Cheldi A, Scarlato G, Minetti C
Neuropediatrics. 1985 Aug;16(3):162-6. doi: 10.1055/s-2008-1059533.
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.
对一例先天性神经肌肉疾病患者的肌肉活检进行的组织学、组织化学和超微结构研究发现了异常结果，包括肌肉纤维均一性，均为I型且直径小，锯齿状Z线以及线粒体异常发达的横向网络。肌电图检查显示为肌病模式，但线粒体变化与线粒体肌病中报道的变化截然不同，且锯齿状Z线似乎与去神经萎缩、靶纤维、核心样病变或杆状体肌病的其他Z线异常中出现的Z线流相关性较差。另一方面，I型组织化学均一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元机制的某些功能障碍有关。这也表明肌源性肌电图模式实际上可能是假性肌病，并且是由于组成运动单位的单个肌纤维横截面积减小所致。
