Genetic & Genomic MedicinemedRxivPreprint
AMPD2 deficiency causes variable-onset Leigh syndrome and implicates cytosolic purine balance in the structural preservation of respiratory complex V
Justin Simo, Alexandre Janer, Hana Antonická…·Roberta La Piana
This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.
DOI 10.1101/2025.09.17.25335877