Estévez-Arias, Berta https://orcid.org/0000-0002-1711-7489
Matalonga, Leslie
Yubero, Delia
Polavarapu, Kiran https://orcid.org/0000-0002-8879-6001
Codina, Anna
Ortez, Carlos
Carrera-García, Laura https://orcid.org/0000-0003-4762-7591
Expósito-Escudero, Jesica https://orcid.org/0000-0002-6233-823X
Jou, Cristina
Meyer, Stefanie
Kilicarslan, Ozge Aksel
Aleman, Alberto https://orcid.org/0000-0002-8820-693X
Thompson, Rachel
Luknárová, Rebeka
Esteve-Codina, Anna
Gut, Marta
Laurie, Steven https://orcid.org/0000-0003-3913-5829
Demidov, German https://orcid.org/0000-0001-9075-4276
Yépez, Vicente A.
Beltran, Sergi
Gagneur, Julien
Topf, Ana https://orcid.org/0000-0002-9227-2526
Lochmüller, Hanns https://orcid.org/0000-0003-2324-8001
Nascimento, Andres
Hoenicka, Janet
Palau, Francesc https://orcid.org/0000-0002-8635-5421
Natera-de Benito, Daniel https://orcid.org/0000-0001-7764-2085
Funding for this research was provided by:
Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (CP22/00141, PI22-00680, ACCI2021-20)
Government of Catalonia | Agència de Gestió d'Ajuts Universitaris i de Recerca (2024 FI-1 00075, 2021-SGR-01610)
Deutsche Forschungsgemeinschaft (413501650)
Gouvernement du Canada | Canadian Institutes of Health Research (FDN-167281)
Canada Foundation for Innovation (CFI-JELF 38412)
Canada Research Chairs (950-232279)
Ministry of Economy and Competitiveness | Agencia Estatal de Investigación (PID2020-114655RB-100)
Government of Catalonia | Agència de Gestió d'Ajuts Universitaris i de Recerca
Article History
Received: 5 June 2024
Revised: 23 July 2024
Accepted: 19 September 2024
First Online: 27 September 2024
Change Date: 6 December 2024
Change Type: Update
Change Details: The original article has been corrected: There was a typo in Table 1 for patient 17. The correct variant is "c.33055del (p.Glu11019Serfs*21)" instead of "c.32104del (p.Ser10702LeufsTer6)"
Change Date: 10 December 2024
Change Type: Correction
Change Details: A Correction to this paper has been published:
Change Details: https://doi.org/10.1038/s41431-024-01756-y
Competing interests
: The authors declare no competing interests.
: Data were collected and analyzed following the ethics guidelines of Hospital Sant Joan de Déu (PIC 98-20). The family provided written informed consent for the study.