A human mitofusin 2 mutation causes mitophagic cardiomyopathy
A human mitofusin 2 mutation causes mitophagic cardiomyopathy
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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English
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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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 mu...
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Full title
A human mitofusin 2 mutation causes mitophagic cardiomyopathy
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TN_cdi_proquest_journals_2739272249
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2739272249
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E-ISSN
2692-8205
DOI
10.1101/2022.11.22.517462
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https://www.proquest.com/docview/2739272249?pq-origsite=primo&accountid=13902
