article_metadata: Yoshiaki Takahashi Nobutoshi Morimoto Tomoaki Nada Mizuki Morimoto Nobuyuki Eura Narihiro Minami Ichizo Nishino
article_metadata: 10.3233/JND-221669
article_metadata: J Neuromuscul Dis
article_metadata: 2023;10(3):459-463.
article_metadata: oculopharyngeal muscular dystrophy pabpn1 protein point mutation polyalanine tryptophan
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36847015/
article_metadata: Muscular Dystrophy, Oculopharyngeal / genetics Muscular Dystrophy, Oculopharyngeal / pathology
article_metadata: Muscular Dystrophy, Oculopharyngeal / genetics Muscular Dystrophy, Oculopharyngeal / pathology Case Reports Aged Alanine / genetics Glycine / genetics Humans Male Point Mutation Poly(A)-Binding Protein I / genetics polyalanine Alanine Glycine PABPN1 protein, human Poly(A)-Binding Protein I
article_metadata: PMC10200208
article_metadata: 36847015
article_metadata: A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion
article_metadata: 2023