线状体肌病一例报告及超微病理分析

本文报道一例线状体肌病超微病理分析.电镜观察可查见约80％肌纤维细胞胞浆内有大量的线状体积聚,线状体积聚区域形成空区,呈现灶状肌节结构消失,肌丝松解、紊乱或断裂等超微结构病变,并结合文献复习,探讨了线状体肌病的临床与超微病理的相关性.

Nemaline myopathy:a case report and ultrapathological analysis

Nemaline myopathy is a rare type of congenital myopathy with the symptom of abnormal thread-like nemaline bodies in muscle fibers.Only a few cases have been reported since the report by Shy et al.in 1963.This paper reports a case of nemaline myopathy and its ultrapathological analysis,the reported case include lower extremities weakness since infantile period,deterioration after 10 years,extremely slow progression,and weakness in proximal limb muscles.Under TEM,large amount of accumulated nemaline is visible,affecting the majority of muscle fibers.The nemaline bodies accumulated area formed hollow structure with vanished focal sarcomere structures,muscle relaxation and disorder,or muscle rupture.Electron microscopy can be used to accurately localize nemaline bodies for ultrapathological diagnosis of nemaline myopathy.