title: Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2.
abstract: Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.
authors.affiliation: Department of Pathology, University of New Mexico, Health Sciences Center, Albuquerque 87131, USA.
authors.forename: M W
authors.initials: MW
authors.lastname: Becher
authors.forename: J A
authors.initials: JA
authors.lastname: Kotzuk
authors.forename: L E
authors.initials: LE
authors.lastname: Davis
authors.forename: D G
authors.initials: DG
authors.lastname: Bear
mesh_terms: D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology*; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins / Q000032:analysis*
chemical_list: D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins