Open access
Aug 2026
A loss-of-function mutation in the GTPase domain of MFN2, perverting mitochondrial dynamics, is associated with dilated cardiomyopathy
Functional analysis in stable H9c2 cardiomyoblast cell lines demonstrated significantly reduced MFN2 mutant protein expression, extensive mitochondrial clustering and fragmentation, suggesting a significant correlation with the pathogenesis of DCM.
M. Gupta, A. Mukhopadhyay, M. Yadav et al.
· medRxiv · 0 citations