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Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case

BACKGROUND: Sudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD. The DCM is characterized by a cardiac dilatation and a reduced systolic function with a prevale...

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Detalles Bibliográficos
Autores principales: Jin, Jie-Yuan, Xiao, Jiao, Dong, Yi, Sheng, Yue, Guo, Ya-Dong, Xiang, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8924128/
https://www.ncbi.nlm.nih.gov/pubmed/35310975
http://dx.doi.org/10.3389/fcvm.2022.806977