Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease
Sarah J. Smith, Samira Ait-El-Mkadem Saadi, Jamie K. Leighton, Lucie S Taylor, Andrew Michael Frey, Michael G. Nelson, Paulina Castañeda-Támez, Emmanuelle C. Genin, Richard C. Caswell, Abeer Dannoura, Hanan E. Shamsheldin, Konstantina Fragaki, Cécile Rouzier, Langping He, Mahmoud R. Fassad, , Robert William Taylor
This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.
medRxiv · Oct 19, 2026 · PreprintGenetic & Genomic Medicine