This website provides information on patients with pathogenic variants in the NDUFA6 gene, including clinical features, molecular data, management advice and research options.

Recessive pathogenic mutations in the NDUFA6 gene cause mitochondrial disease with a variable clinical presentation, though often it is a multisystem disorder associated with a marked isolated complex I deficiency in muscle and/or fibroblasts. Not all individuals with a mutation in the NDUFA6 gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NDUFA6 gene.

Charlotte L Alston, PhD, Wellcome Centre for Mitochondrial Research, Newcastle upon Tyne, UK, charlotte.alston@ncl.ac.uk

Robert McFarland, MD, Wellcome Centre for Mitochondrial Research, Newcastle upon Tyne, UK, robert.mcfarland@ncl.ac.uk

Robert W Taylor, MD, Wellcome Centre for Mitochondrial Research, Newcastle upon Tyne, UK, Robert.Taylor@newcastle.ac.uk