Article

A human mitofusin 2 mutation causes mitophagic cardiomyopathy

2022-11-23

Abstract excerpt

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 ~20x over-represented in clinical cardiomyopathy, whereas this specific mutation is not reported as a cause of the MFN2 mutant-induced peripheral neuropathy, Charcot-Marie-Tooth disease typ...

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Literature Corpus work: bfd66c53-578e-5fa6-bfab-1e9d7f4c03f6
DOI: 10.1101/2022.11.22.517462

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