André Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America
✍ Scribed by Jean-Pierre Bouchard
- Book ID
- 117670622
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 740 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0960-8966
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📜 SIMILAR VOLUMES
## Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant myopathy found world-wide, but with the highest incidence in French-Canadians. Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Can
Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. The OPMD-locus has been mapped to chromosome 14q11.2-q13. The polyadenylate binding protein nuclear 1 (PABPN1; PABP2) gene has been identified as the mutated gene. The mutation consists of a short meiotical