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Article

Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.

Scientific reports - 20 Feb 2017

Cheng Jianding, Kyle John W, Wiedmeyer Brandi, Lang Di, Vaidyanathan Ravi, Makielski Jonathan C

Abstract excerpt

Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS. A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic...

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Source

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Identifiers

PMID: 28218286
DOI: 10.1038/srep42953
PMCID: PMC5317164

Genes

VCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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