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Archive ouverte | Harish, Pradeep | CCSD

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Archive ouverte | Klein, Pierre | CCSD

International audience. A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystro-phy (OPMD). Mutated PABPN1 proteins accumulate as...

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Archive ouverte | Roth, Fanny | CCSD

International audience. Abstract Oculopharyngeal muscular dystrophy (OPMD) is a rare muscle disease characterized by an onset of weakness in the pharyngeal and eyelid muscles. The disease is caused by the extension ...

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