Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2

Mark W. Becher, Joyce A. Kotzuk, Larry E. Davis, David G. Bear

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

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 languageEnglish (US)
Pages (from-to)812-815
Number of pages4
JournalAnnals of Neurology
Volume48
Issue number5
DOIs
StatePublished - 2000
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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