Article
Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.
Cell death & disease - 29 Jan 2026
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
Abstract excerpt
Inherited myopathies are genetic disorders characterised by declining motor function due to progressive muscle weakening and wasting. Recently, pathogenic variants in PAX7, the master transcriptional regulator of muscle stem cells, have been associated with myopathies of variable severity, arguing for impaired satellite cell function as the main pathogenic driver. Here, we report the characterisation of two...
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