Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.
双等位基因 PAX7 变异体引起一种新型卫星细胞病，伴有进行性肌肉受累，类似于面肩肱型肌营养不良症。
期刊:Cell Death & Disease
影响因子:9.6
doi:10.1038/s41419-025-08358-6
Ganassi Massimo, Strafella Claudia, Savarese Marco, Heher Philipp, Engquist Elise N, McGuire Liam, Johari Mridul, De Nicola Gian F, Bigot Anne, Mouly Vincent, Bortolani Sara, Torchia Eleonora, Monforte Mauro, Megalizzi Domenica, Sabino Andrea, Ricci Enzo, Giardina Emiliano, Zammit Peter S, Tasca Giorgio
