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Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2
Author(s) -
Becher Mark W.,
Kotzuk Joyce A.,
Davis Larry E.,
Bear David G.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200011)48:5<812::aid-ana20>3.0.co;2-2
Subject(s) - oculopharyngeal muscular dystrophy , muscular dystrophy , gene , pathology , inclusion bodies , biology , medicine , anatomy , genetics , escherichia coli
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. Ann Neurol 2000;48:812–815