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Article History

Received: 13 March 2025

Revised: 3 November 2025

Accepted: 1 December 2025

First Online: 24 December 2025

Competing interests

: The authors declare no competing interests.

: The parents of the patient gave consent to all procedures, which followed institutional guidelines and were in accordance with the Helsinki declaration. The ethics committee of the Capital Region of Denmark exempted the study from normal approval as all procedures performed on the patient were part of the routine clinical workup. Genetic testing was approved by the Newcastle and North Tyneside research ethics committee (REC #09/H0906/28). Mice experiments were approved by the Danish Animal Inspectorate (permit #2019-15-0201-00286). MYO-SEQ was funded by Sanofi Genzyme, Ultragenyx, LGMD2I Research Fund, Samantha J. Brazzo Foundation, LGMD2D Foundation and Kurt+Peter Foundation, Muscular Dystrophy UK, and Coalition to Cure Calpain 3. Analysis was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute grant UM1 HG008900, and in part by National Human Genome Research Institute grant R01 HG009141.