" /> Oculopharyngeal Muscular Dystrophy - CISMeF





Preferred Label : Oculopharyngeal Muscular Dystrophy;

NCIt synonyms : OPMD;

NCIt definition : An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.;

Détails


Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.