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Updated: Aug 2, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2
M W Becher1, J A Kotzuk, L E Davis
1Department of Pathology, University of New Mexico, Health Sciences Center, Albuquerque 87131, USA.
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.
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