| Literature DB >> 11079550 |
M W Becher1, J A Kotzuk, L E Davis, D G Bear.
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.Entities:
Mesh：
Substances：
Year: 2000 PMID： 11079550
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422