TEFM variants impair mitochondrial transcription elongation causing childhood-onset neurological disease. TEFM variants impair mitochondrial transcription elongation causing childhood-onset neurological disease

We report that TEFM variants are associated with mitochondrial respiratory chain deficiency. We show that patient's cells have reduced levels of promoter distal mitochondrial RNA transcripts. Overall design: Patient's fibroblasts and muscle samples as well as control samples were analysed by RNA-Seq