The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
Mashiat Zaman, Govinda Sharma, Walaa Almutawa…·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.