A Human Mitofusin 2 Mutation Can Cause Mitophagic Cardiomyopathy

Investigators determined that the rare mitofusin (MFN) 2 R400Q mutation was 15–20× over-represented in clinical cardiomyopathy, whereas this specific mutation was not reported as a cause of MFN2 mutant-induced peripheral neuropathy, Charcot–Marie–Tooth disease type 2A.