Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1....

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Detalles Bibliográficos
Autores principales: Richard, Pascale, Trollet, Capucine, Stojkovic, Tanya, de Becdelievre, Alix, Perie, Sophie, Pouget, Jean, Eymard, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272966/
https://www.ncbi.nlm.nih.gov/pubmed/28011929
http://dx.doi.org/10.1212/WNL.0000000000003554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272966/
https://www.ncbi.nlm.nih.gov/pubmed/28011929
http://dx.doi.org/10.1212/WNL.0000000000003554

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