Goulon M, Fardeau M, Got L, Babinet P, Manko E
Rev Neurol (Paris). 1976 Apr;132(4):275-90.
A new case of late-onset centronuclear myopathy is reported. Clinical manifestations only occurred after 27 years age and consisted in diffuse muscle weakness without any ocular involvement. No other case was found in the family. In muscle biopsies the frequence of central nuclei was close to 100 p. 100. With the myofibrillar A.T.Pase reaction, almost all the fibers were type I. Furthermore, the electron microscopic study showed frequent vacuoles and splitting aspects of the muscle fibres, with "en passant" myotendinous junctions. Unusual granular bodies were found near the basement membrane, in particular within the subneural folds of the end-plates.
报告了一例迟发性中央核性肌病新病例。临床表现仅在27岁以后出现，表现为弥漫性肌肉无力，无任何眼部受累。家族中未发现其他病例。肌肉活检中中央核的频率接近100%。通过肌原纤维ATP酶反应，几乎所有纤维均为I型。此外，电子显微镜研究显示肌肉纤维频繁出现空泡和分裂现象，伴有“过路”型肌-肌腱连接。在基底膜附近，特别是终板的神经下皱襞内发现了异常的颗粒体。
