目的分析肌病伴管聚集这种罕见的以细胞器异常为主的先天性肌肉病的临床和病理特点。方法通过临床、电生理及病理分析对本病进行诊断。结果本例临床具有特殊性，既有发作性负荷性肌肉病的特点，又有类重症肌无力的表现；肌电图可见有些肌群有神经源性损害，而重频刺激未见递增和递减现象；病理检查发现肌肉组织具有典型的改变，而且还有神经肌肉接头和周围神经受损。结论本病是一种多系统受损害的疾病 OBJECTIVE: To analyze the clinical and pathological features of myopathic muscular dystrophy with rare organelles. Methods The clinical, electrophysiological and pathological analysis of the disease diagnosis. Results of this case has a particular clinical features, both the characteristics of episodic load-bearing muscle disease, but also the performance of myasthenia gravis; EMG shows that some muscles have neurogenic damage, and repeated frequency stimulation did not increase and decrease Phenomenon; pathological examination revealed a typical change in muscle tissue, but also neuromuscular junction and peripheral nerve damage. Conclusion This disease is a multi-system compromised disease