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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Detalles Bibliográficos
Autores principales: Cheng, Jianding, Kyle, John W., Wiedmeyer, Brandi, Lang, Di, Vaidyanathan, Ravi, Makielski, Jonathan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317164/
https://www.ncbi.nlm.nih.gov/pubmed/28218286
http://dx.doi.org/10.1038/srep42953

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