Fidziańska A, Niebrój-Dobosz I, Badurska B, Ryniewicz B
J Neurol. 1984;231(4):212-9. doi: 10.1007/BF00313941.
Morphological and biochemical studies were performed in three cases of congenital non-progressive myopathy in two generations of the same family. In the muscle biopsy nearly all the fibres were uniform in enzyme activity and belonged to type 2 C. Typical structural central cores were observed in 90% of the muscle fibres. Some ultrastructural characteristics of the core area, as well as disturbances of the myofibrillar proteins pattern, seen in the examined cases suggest that core formation may be a result of protein synthesis disturbances in an early stage of myogenesis.
对同一家族两代人中的3例先天性非进行性肌病患者进行了形态学和生化研究。在肌肉活检中，几乎所有纤维的酶活性均一，属于2C型。在90%的肌纤维中观察到典型的结构性中央核。在所检查病例中看到的核区域的一些超微结构特征以及肌原纤维蛋白模式的紊乱表明，核形成可能是肌生成早期蛋白质合成紊乱的结果。
