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Concept information

Terme préférentiel

Muscular Dystrophy, Oculopharyngeal  

Type

  • mesh:Descriptor

Définition

  • An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.

Concept générique

Synonyme(s)

  • Oculopharyngeal Dystrophy
  • Oculopharyngeal Muscular Dystrophy
  • Progressive Muscular Dystrophy, Oculopharyngeal Type

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-X6RPW81M-T

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RDF/XML TURTLE JSON-LD Date de création 03/07/2002, dernière modification le 08/07/2013