TY - T1的最早的病理改变dysferlinopathy JF -神经学乔-神经病学SP - 1472 LP - 1481 - 10.1212 /首页 WNL.56.11.1472六世- 56 - 11盟Duygu Selcen AU -盖尔静盟安德鲁·g·恩格尔Y1 - 2001/06/12 UR - //www.ez-admanager.com/content/56/11/1472.abstract N2 -背景:Dysferlinopathies与近端或远端肌肉萎缩症。Dysferlin immunolocalizes肌肉纤维外围但不与dystrophin-glycoprotein复杂;其功能在人类,它会导致肌肉纤维损伤的机理,还不为人知。作者因此寻找发病的早期线索通过检查异常nonnecrotic dysferlinopathy肌肉纤维。五dysferlin-deficient患者调查。弱点在两个远端,在一个近端,近端和远端在两个。患者5只有轻微的影响。方法:免疫印迹分析,膜攻击复杂(MAC) immunolocalization和定量电子显微镜。结果:患者1到4,而不是5部分或整个表面孤立nonnecrotic肌肉纤维为MAC应用。175年定量电子显微镜nonnecrotic肌肉纤维显示一个或多个以下:1)小(0.11到1.8μm) plasmalemmal缺陷纤维的64%;2)增厚基板在一些缺陷; 3) replacement of the plasma membrane by one to multiple layers of small vesicles in 57% of fibers; 4) papillary projections, frequently disintegrating, in 24 to 36% of fibers in Patients 1 through 4 but absent in fibers of Patient 5; 5) small subsarcolemmal vacuoles, some undergoing exocytosis, in 57% of fibers; and 6) infrequent subsarcolemmal regions containing rough endoplasmic reticulum and abundant free ribosomes. Conclusions: Dysferlin is likely required for maintaining the structural integrity of the muscle fiber plasma membrane, and plasma membrane injury is an early event in the pathogenesis of dysferlinopathy. MAC activation can participate in but is not an initial or primary event causing muscle fiber injury. ER -