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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
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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

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