GeneticsbioRxivPreprint
Homozygous c.820G>A variant in MGME1 contributes to multi-systemic mitochondrial dysfunction in an Indian patient cohort
Pranavi Hegde, Amoolya Kandettu, Arpan Bhattacharyya…·Sanjiban Chakrabarty
This study identifies a homozygous MGME1 variant in an Indian cohort causing mitochondrial dysfunction through impaired mtDNA replication and repair.
DOI 10.64898/2026.05.18.725852