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