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Article History

Received: 10 November 2025

Accepted: 11 February 2026

First Online: 2 March 2026

Declarations

:

: All mouse work in this study was performed under the approval of the Children’s Hospital at Westmead/Children’s Medical Research Institute Animal Ethics approval K380 and the Western Sydney Local Health Animal Ethics approval 4364.02.20 – Modelling human PYROXD1 myopathy and Murdoch Children’s Research Institute approval A969. Principles of laboratory animal care (NIH publication No. 86–23, revised 1985) were followed, as well as specific Australian animal welfare laws where applicable. Human muscle biopsies were obtained under Ethics approval by the Children’s Hospital at Westmead Human Research Ethics Committee (Biospecimen Bank_10/CHW/ 45 and 2019/ETH11736) with informed, written consent.

: Not applicable.

: S.T.C is volunteer member of ClinGen Expert Panels: Muscular Dystrophies and Myopathies GCEP and Limb Girdle Muscular Dystrophy VCEP. S.T.C is named Inventor of Intellectual Property (IP) relating to novel methods to identify splicing variants, at varying stages of review by International Patent Offices. 1) WO2020097660A1. Inventors S. Cooper and H. Joshi. 2) WO2020/181333. Inventor S. Cooper. This IP is owned jointly by The University of Sydney and Sydney Children’s Hospitals Network. S.T.C is Director of Frontier Genomics Pty Australia which has licenced this IP and is commercialising GENEie. S.T.C currently receives no remuneration or consultancy fees for this role. No other authors have relevant financial or non-financial interests to disclose.