A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

Immediately after the initial methionine codon, the PABPN1 gene encodes a stretch of 10 alanines, 1 glycine, and 2 alanines. Oculopharyngeal muscular dystrophy (OPMD) is caused by the expansion of the first 10 alanine stretches. The only exception is the missense mutation of glycine at the 12(th) re...

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Detalles Bibliográficos
Autores principales: Takahashi, Yoshiaki, Morimoto, Nobutoshi, Nada, Tomoaki, Morimoto, Mizuki, Eura, Nobuyuki, Minami, Narihiro, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10200208/
https://www.ncbi.nlm.nih.gov/pubmed/36847015
http://dx.doi.org/10.3233/JND-221669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10200208/
https://www.ncbi.nlm.nih.gov/pubmed/36847015
http://dx.doi.org/10.3233/JND-221669

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