PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

Oculopharyngeal muscular dystrophy (OPMD) is mainly characterized by ptosis and dysphagia. The genetic cause is a short expansion of a (GCN)10 repeat encoding for polyalanine in the poly(A) binding protein nuclear 1 (PABPN1) gene to (GCN)12–17 repeats. The (GCN)11/Ala11 allele has so far been descri...

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Detalles Bibliográficos
Autores principales: Richard, Pascale, Trollet, Capucine, Gidaro, Teresa, Demay, Laurence, Brochier, Guy, Malfatti, Edoardo, Tom, Fernando MS, Fardeau, Michel, Lafor, Pascal, Romero, Norma, Martin-N, Marie-Laure, Sol, Guilhem, Ferrer-Monasterio, Xavier, Saint-Guily, Jean Lacau, Eymard, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271460/
https://www.ncbi.nlm.nih.gov/pubmed/27858728
http://dx.doi.org/10.3233/JND-140060

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