INTRANUCLEAR RODS IN SEVERE CONGENITAL NEMALINE MYOPATHY

被引：33

作者：

RIFAI, Z ^{[1
]}

KAZEE, AM ^{[1
]}

KAMP, C ^{[1
]}

GRIGGS, RC ^{[1
]}

机构：

[1] UNIV ROCHESTER,MED CTR,DEPT PATHOL,ROCHESTER,NY 14642

来源：

NEUROLOGY | 1993年 / 43卷 / 11期

关键词：

D O I：

10.1212/WNL.43.11.2372

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We compared the muscle pathology and clinical course in eight patients with congenital nemaline myopathy. An abundance of large intranuclear rods was present in the muscle fibers of one patient with a rapid, fatal course. Intranuclear rods were not present in the muscles of seven patients with a benign course. The large intranuclear rods and the smaller sarcoplasmic rods were similar ultrastructurally and exhibited positive immunoperoxidase staining with anti-alpha-actinin antibodies. The accumulation of alpha-actinin within myonuclei may reflect a severe disturbance of normal intracellular processes regulating myofibrillar synthesis. Since two previously reported infants with intranuclear nemaline rods also had a fatal outcome, the presence of intranuclear rods may represent a marker for a severe form of congenital nemaline myopathy.

引用

页码：2372 / 2377

页数：6

共 33 条

[1] INVESTIGATIONS ON INHERITANCE OF NEMALINE MYOPATHY [J].