Novel α‐Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical‐Pathologic Correlation

BACKGROUND: Mutations of α‐actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel ACTC mutation is reported as cosegregating for familial hypertroph...

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Detalles Bibliográficos
Autores principales: Frustaci, Andrea, De Luca, Alessandro, Guida, Valentina, Biagini, Tommaso, Mazza, Tommaso, Gaudio, Carlo, Letizia, Claudio, Russo, Matteo Antonio, Galea, Nicola, Chimenti, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850207/
https://www.ncbi.nlm.nih.gov/pubmed/29440008
http://dx.doi.org/10.1161/JAHA.117.008068

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