Variant R94C in TNNT2‐Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

BACKGROUND: Pediatric‐onset restrictive cardiomyopathy (RCM) is associated with high mortality, but underlying mechanisms of disease are under investigated. RCM‐associated diastolic dysfunction secondary to variants in TNNT2‐encoded cardiac troponin T (TNNT2) is poorly described. METHODS AND RESULTS...

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Detalles Bibliográficos
Autores principales: Ezekian, Jordan E., Clippinger, Sarah R., Garcia, Jaquelin M., Yang, Qixin, Denfield, Susan, Jeewa, Aamir, Dreyer, William J., Zou, Wenxin, Fan, Yuxin, Allen, Hugh D., Kim, Jeffrey J., Greenberg, Michael J., Landstrom, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335540/
https://www.ncbi.nlm.nih.gov/pubmed/32098556
http://dx.doi.org/10.1161/JAHA.119.015111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335540/
https://www.ncbi.nlm.nih.gov/pubmed/32098556
http://dx.doi.org/10.1161/JAHA.119.015111

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