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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
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 |
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