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Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations

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  • Funding PFC is a Wellcome Trust Senior Fellow in Clinical Science who also receives funding from the Medical Research Council (UK), the UK Parkinson's Disease Society, and the UK NIHR Biomedical Research Centre for Ageing and Age Related Disease Award to the Newcastle upon Tyne Foundation Hospitals NHS Trust. RWT is supported by the UK National Commissioning Group for Rare Mitochondrial Disorders of Adults and Children. PYWM is an MRC (UK) Clinical Research Fellow.

  • Competing interests None.

  • Patient consent Obtained.

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