This website provides information on patients with mutations in the TEFM (Transcription Elongation Factor, Mitochondrial) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TEFM gene is a multisystem disorder characterized by a broad and variable phenotype ranging from severe neonatal lactic acidosis to epileptic encephalopathy and milder phenotypes with developmental delay and intellectual disability with non specific changes on brain MRI or mitochondrial myopathy with a neuromuscular transmission defect. Features can vary between and within families.

Not all individuals with a mutation in the TEFM gene have all of the features.

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

Catarina Olimpio, MBChB, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK, co446@medschl.cam.ac.uk

Rita Horvath, MD, PhD, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK, rh732@medschl.cam.ac.uk