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Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy

Lookup NU author(s): Professor Giorgio TascaORCiD

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Author(s): Ganassi M, Strafella C, Savarese M, Heher P, Engquist EN, McGuire L, Johari M, De Nicola GF, Bigot A, Mouly V, Bortolani S, Torchia E, Monforte M, Megalizzi D, Sabino A, Ricci E, Giardina E, Zammit PS, Tasca G

Publication type: Article

Publication status: Published

Journal: Cell Death & Disease

Year: 2026

Volume: 17

Online publication date: 29/01/2026

Acceptance date: 04/12/2025

Date deposited: 20/03/2026

ISSN (electronic): 2041-4889

Publisher: Nature Publishing Group

URL: https://doi.org/10.1038/s41419-025-08358-6

DOI: 10.1038/s41419-025-08358-6

Data Access Statement: All the raw data can be accessed on request.

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