Developmental BiologyeLifePeer-reviewed
A human mitofusin 2 mutation causes mitophagic cardiomyopathy
Antonietta Franco, Jiajia Li, Daniel P. Kelly…·Gerald W. Dorn
The paper identifies a mitofusin 2 mutation (R400Q) that causes mitophagic cardiomyopathy by impairing mitochondrial fusion and Parkin recruitment, distinct from its role in CMT2A.