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A loss-of-function mutation in the GTPase domain of <i>MFN2</i> , perverting mitochondrial dynamics, is associated with dilated cardiomyopathy

2026-08-11

Abstract excerpt

Mitofusin 2 (MFN2), a key outer mitochondrial membrane GTPase, regulates mitochondrial fusion, mitophagy, calcium homeostasis, and cellular bioenergetics. This study investigated the role of MFN2 variants in patients with Dilated Cardiomyopathy (DCM) using whole-exome sequencing (WES) of 5 familial and 10 sporadic DCM cases. A rare de-novo MFN2 variant, c.932A>G (p. N311S), was identified in a DCM patient, whic...

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Literature Corpus work
605aae89-d91b-54ab-9549-3961a1e5da28
DOI
10.64898/2026.08.10.26360061
Open publication

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A loss-of-function mutation in the GTPase domain of <i>MFN2</i> , perverting mitochondrial dynamics, is associated with dilated cardiomyopathyDOI 10.64898/2026.08.10.26360061
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