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

por Takahashi, Yoshiaki, Morimoto, Nobutoshi, Nada, Tomoaki, Morimoto, Mizuki, Eura, Nobuyuki, Minami, Narihiro, Nishino, Ichizo
Publicado 2023