The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
Mashiat Zaman, Govinda Sharma, Walaa Almutawa, Tyler Soule, Rasha Sabouny, Matthew Joel, Armaan Mohan, Cole Chute, Jeffrey T. Joseph, Gerald Pfeffer, Timothy E. Shutt
The paper identifies a novel MFN2 variant, Q367H, linked to mtDNA-mediated inflammation in a patient with distal myopathy, revealing a pathomechanism connecting MFN2 dysfunction to inflammatory signaling.
Life Science Alliance · Apr 2, 2025Peer-reviewedGenetic & Genomic Medicine