A human mitofusin 2 mutation can cause mitophagic cardiomyopathy

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy

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 cardiomyopathy, whereas this specifi...

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Bibliographic Details
Main Authors: Antonietta Franco, Jiajia Li, Daniel P Kelly, Ray E Hershberger, Ali J Marian, Renate M Lewis, Moshi Song, Xiawei Dang, Alina D Schmidt, Mary E Mathyer, John R Edwards, Cristina de Guzman Strong, Gerald W Dorn
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2023-11-01
Series:eLife
Subjects:
cardiomyopathy
heart
mitochondria
mitofusins
Online Access:https://elifesciences.org/articles/84235

Internet

https://elifesciences.org/articles/84235

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