O01 Autologous cell therapy in oculopharyngeal muscular dystrophy (OPMD)
✍ Scribed by Périé, S.; Trollet, C.; Mouly, V.; Larghero, J.; Mamchaoui, K.; Bouazza, B.; Toy-Miou, M.; Marolleau, J.P.; Eymard, B.; Laforêt, P.; Chapon, F.; Butler-Browne, G.; Guily, J. Lacau St
- Book ID
- 123119232
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 88 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0960-8966
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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
## Abstract Duchenne's muscular dystrophy (DMD), which affects 1/3500 live male births, involves a progressive degeneration of skeletal and cardiac muscle, leading to early death. The protein dystrophin is lacking in DMD and present, but defective, in the allelic, less severe, Becker muscular dystr