Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models
HSPB8 基因的新型突变会导致严重的早发性肌病，并累及呼吸肌和心肌，进而导致细胞模型中的蛋白质稳态缺陷。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01868-z
Tedesco, Barbara; Peric, Stojan; Kocak, Goknur Selen; Tan, Jiayan; Duong, Han; Töpf, Ana; Rakocevic-Stojanovic, Vidosava; Milenkovic, Sanja; Parkhurst, Yolande; Gibbs, Liliane; Martin-Rios, Angela; Lambiase, Pier D; Guttmann, Oliver P; Marini-Bettolo, Chiara; Harris, Elizabeth; Harms, Matthew B; Ivanovic, Vukan; Marchesi, Veronica; Milone, Margherita; Timmerman, Vincent; Straub, Volker; Poletti, Angelo; Kimonis, Virginia
