Homozygous c.820G>A variant in MGME1 contributes to multi-systemic mitochondrial dysfunction in an Indian patient cohort
Pranavi Hegde, Amoolya Kandettu, Arpan Bhattacharyya, Budheswar Dehury, SK Nair, Rajalakshmi Poyuran, Smily Sharma, Benu Brata Das, Soumya Sundaram, Sanjiban Chakrabarty
This study identifies a homozygous MGME1 variant in an Indian cohort causing mitochondrial dysfunction through impaired mtDNA replication and repair.
bioRxiv · May 20, 2026 · PreprintGenetics