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Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy

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  • JMM and MMR contributed equally.

  • Contributors LFO'D collected data, performed the primary analysis and wrote the manuscript. JMM and MMR contributed equally to this paper. JMM was responsible for the paper concept and design, data collection, primary analysis, writing the manuscript and edits. MMR was responsible for the paper concept and design, data collection, primary analysis writing the manuscript and edits. AC, AMR, ML, JB, MS, MPL, JST and RC were responsible for data interpretation and edits.

  • Funding LFO'D is funded by the NIH grant Accelerate Clinical Trials in CMT (1UOINS109403-01). AC would like to thank the Medical Research Council (MR/T001712/1), the Fondazione CARIPLO (2019-1836), the Inherited Neuropathy Consortium (INC) and Fondazione Regionale per la Ricerca Biomedica for grant support. MMR acknowledges support from the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712 and 1UOINS109403-01 and R21TROO3034), Muscular Dystrophy Association (MDA510281), the Medical Research Council (MRC MR/S005021/1) and the Charcot Marie Tooth Association (CMTA) for their support. RC was supported by the European Academy of Neurology Research Fellowship 2021. This research was also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.