title: Intranuclear rods in severe congenital nemaline myopathy.
abstract: 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.
authors.affiliation: Department of Neurology, University of Rochester Medical Center, NY 14642.
authors.forename: Z
authors.initials: Z
authors.lastname: Rifai
authors.forename: A M
authors.initials: AM
authors.lastname: Kazee
authors.forename: C
authors.initials: C
authors.lastname: Kamp
authors.forename: R C
authors.initials: RC
authors.lastname: Griggs
mesh_terms: D000293:Adolescent; D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure*; D002648:Child; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure*; D017696:Myopathies, Nemaline / Q000473:pathology*