Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants

Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants

Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterized by ventricular dilation and depressed myocardial performance in the absence of hypertension, valvular, congenital, or ischemic heart disease. Mutations in LMNA gene, encoding for lamin A/C, account...

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Autores principales: Valentina Ferradini, Joseph Cosma, Fabiana Romeo, Claudia De Masi, Michela Murdocca, Paola Spitalieri, Sara Mannucci, Giovanni Parlapiano, Francesca Di Lorenzo, Annamaria Martino, Francesco Fedele, Leonardo Calò, Giuseppe Novelli, Federica Sangiuolo, Ruggiero Mango
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
dilated cardiomyopathy (DCM)
LMNA
lamin A
lamin C
next generation sequencing (NGS)
Medicine
R
Acceso en línea:https://doaj.org/article/cfa56b9959c84e2193cddbd219587381
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https://doaj.org/article/cfa56b9959c84e2193cddbd219587381

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