Becher M W, Kotzuk J A, Davis L E, Bear D G
Department of Pathology, University of New Mexico, Health Sciences Center, Albuquerque 87131, USA.
Ann Neurol. 2000 Nov;48(5):812-5.
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.
