This website provides information on patients with pathogenic variants in the TMEM126B gene, including clinical features, molecular data, management advice and research options.

Recessive pathogenic variants in the TMEM126B gene cause mitochondrial disease – only a small number of patients have been reported, but all presented in childhood with exercise intolerance and a myopathic clinical presentation. Unlike many other causes of mitochondrial disease with childhood onset, the prognosis for patients with TMEM126B-related mitochondrial disease appears to be good, with all but one case surviving into adulthood and leading relatively independent lives. TMEM126B encodes an assembly factor and accordingly, gene defects have been demonstrated to cause a marked isolated complex I deficiency in muscle and/or fibroblasts.

Not all individuals with pathogenic variants involving the TMEM126B gene have the same clinical 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 pathogenic variants in the TMEM126B gene.

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

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

Robert Taylor, PhD, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK, robert.taylor@ncl.ac.uk