Adult-onset rod disease with abundant intranuclear rods.
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 alpha-actinin in intranuclear rods suggests an enhanced readiness of actin filaments to bind to diverse proteins, instead of overproduction of alpha-actinin as the pathogenetic basis of the rod formation.
Paulus
W
W
Institut für Hirnforschung, Eberhard-Karls-Universität, Tübingen, Federal Republic of Germany.
Peiffer
J
J
Becker
I
I
Roggendorf
W
W
Schumm
F
F
D000185:Actinin / Q000032:analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000378:metabolism / Q000648:ultrastructure*; D008854:Microscopy, Electron; D008875:Middle Aged; D009135:Muscular Diseases / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology*
D000185:Actinin