Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

"Declarations Ethics approval and consent to participateThe patients in this study were enrolled as part of the ICGNMD study with ethical approval numbers 19/LO/1796 [Health Research Authority (HRA) and Health and Care Research Wales (HCRW)], NWU-00966-19-A1 and NWU-00966-19-A1-01 [Health Research Ethics Committee (NWU-HREC) of the Faculty of Health Sciences, North-West University], 296/2019 (Faculty of Health Sciences Research Ethics Committee, University of Pretoria), B19/01/002 (Health Research Ethics Committee, Stellenbosch University), and 605/2020 (Faculty of Health Sciences Human Research Ethics Committee, University of Cape Town), following informed consent/assent. Consent for publicationThe informed consent/assent accounts for the publication of our research data are available upon request. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

"Funding Open access funding provided by North-West University. This work was supported by a Medical Research Council (MRC) strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD; MR/S005021/1). MB is supported in part by the National Research Foundation (NRF) of South Africa (121311 and PMDS22080748827) as well as the South African Medical Research Council (SAMRC). RM and RWT are funded by the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), the Mitochondrial Disease Patient Cohort (UK) (G0800674), the Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Lily Foundation, the UK NIHR Biomedical Research Centre for Ageing and Age-related Disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust, and the UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children. RWT also receives support from the MRC (MR/W019027/1), Mito Foundation, and the Pathological Society (UK). Funders had no role in the study design, data collection and analysis, data interpretation, decision to publish, or preparation of the manuscript."