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Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.

Abstract:

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (PABP2), in which (GCG)(6) is the normal repeat length. The prevalence of OPMD is greatest in patients of French-Canadian origin. It is not clear if expansion repeat length is a reliable test in other p...

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Publisher copy:
10.1093/brain/124.3.522

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
Brain : a journal of neurology
Volume:
124
Issue:
Pt 3
Pages:
522-526
Publication date:
2001-03-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:83deb2cf-9d30-444b-ba7b-90e06825d9dd
Source identifiers:
241166
Local pid:
pubs:241166

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