Adult-onset rod disease with abundant intranuclear rods |
| |
Authors: | W Paulus J Peiffer I Becker W Roggendorf F Schumm |
| |
Institution: | (1) Institut für Hirnforschung, Eberhard-Karls-Universität, Calwer Str. 3, D-7400 Tübingen, Federal Republic of Germany;(2) Neurologische Klinik, Chrisophsbad Göppingen, D-7320 Göppingen, Federal Republic of Germany |
| |
Abstract: | Summary The third case of adult-onset rod disease (nemaline myopathy) with abundant myofibrillar as well as intranuclear rods is described. The 61-year-old woman suffered from progressive weakness of proximal extremities and of the neck, mimicking polymyositis. Muscle biopsy revealed a striking myopathic pattern, with intranuclear rods occurring in 31% of the fibres. On light and electron microscopy and by immunohistochemical study, the rods differed from myofibrillar rods. The absence of -actinin in intranuclear rods suggests an enhanced readiness of actin filaments to bind to diverse proteins, instead of overproduction of -actinin as the pathogenetic basis of the rod formation. |
| |
Keywords: | Adult-onset rod disease Nemaline myopathy -Actinin" target="_blank">gif" alt="agr" align="BASELINE" BORDER="0">-Actinin Immunohistochemistry Electron microscopy |
本文献已被 SpringerLink 等数据库收录! |
|