- 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...
Expand abstract - Publisher copy:
- 10.1093/brain/124.3.522
-
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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
- Copyright date:
- 2001
Journal article
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.
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