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Authors
Conci, Elena
Kelly, Thomas L.
Armstrong, Ruth
Harijan, Pooja
Horvath, Rita
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Funding
Funding for this research was provided by:
Wellcome Discovery Award (226653/Z/22/Z)
Medical Research Council (MR/V009346/1)
Addenbrookes Charitable Trust (G100142)
Hereditary Neuropathy Foundation
Stoneygate Trust
Lily Foundation
Ataxia UK
Action for AT
Muscular Dystrophy UK
LifeArc Centre to Treat Mitochondrial Diseases
UKRI/Horizon Europe Guaruantee MSCA Doctoral Netowrk Programme (Project 101120256: MMM)
MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (MR/S005021/1)
NIHR Cambridge Biomedical Research Centre (BRC-1215-20014)
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Article History
Received: 7 June 2025
Accepted: 3 October 2025
First Online: 16 October 2025
Declarations
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: Ethical approval was waived by the local Ethics Committee of University of Cambridge in view of the retrospective nature of the study and all the procedures being performed were part of the routine care. Verbal informed consent for participation was obtained from the patients or their legal representatives. Written informed consent for publication was obtained from the patients or their legal representatives.
: The authors declare no competing interests.
