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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Detalles Bibliográficos
Autores principales: Franco, Antonietta, Li, Jiajia, Kelly, Daniel P, Hershberger, Ray E, Marian, Ali J, Lewis, Renate M, Song, Moshi, Dang, Xiawei, Schmidt, Alina D, Mathyer, Mary E, Edwards, John R, Strong, Cristina de Guzman, Dorn, Gerald W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619978/
https://www.ncbi.nlm.nih.gov/pubmed/37910431
http://dx.doi.org/10.7554/eLife.84235

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