A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A, Li J, Kelly DP, Hershberger RE, Marian AJ, Lewis RM, Song M, Dang X, Schmidt AD, Mathyer ME, Edwards JR, Strong CG, Dorn GW.
Franco A, et al.
Elife. 2023 Nov 1;12:e84235. doi: 10.7554/eLife.84235.
Elife. 2023.
PMID: 37910431
Free PMC article.
Cardiac muscle has the highest mitochondrial density of any human tissue, but mitochondrial dysfunction is not a recognized cause of isolated cardiomyopathy. Here, we determined that the rare mitofusin (MFN) 2 R400Q mutation is 15-20 over-represented in clinical cardiomyop …
Cardiac muscle has the highest mitochondrial density of any human tissue, but mitochondrial dysfunction is not a recognized cause of …