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.
Original language | English (US) |
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Pages (from-to) | 812-815 |
Number of pages | 4 |
Journal | Annals of Neurology |
Volume | 48 |
Issue number | 5 |
DOIs | |
State | Published - 2000 |
Externally published | Yes |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology