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

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 heterozyg...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Cheng, Jianding, Kyle, John W., Wiedmeyer, Brandi, Lang, Di, Vaidyanathan, Ravi, Makielski, Jonathan C.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5317164/
https://ncbi.nlm.nih.gov/pubmed/28218286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep42953
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