Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report

IntroductionCardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes. In Ecuador, cardiovascular diseases were the primary cause of death in 2019, accounting for 26.5% of total dea...

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Bibliographic Details

Published in:	Frontiers in Cardiovascular Medicine
Main Authors:	Patricia Guevara-Ramírez, Santiago Cadena-Ullauri, Rita Ibarra-Castillo, José Luis Laso-Bayas, Elius Paz-Cruz, Rafael Tamayo-Trujillo, Viviana A. Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-03-01
Subjects:	cardiovascular disease genome precision medicine NGS LMNA
Online Access:	https://www.frontiersin.org/articles/10.3389/fcvm.2023.1141083/full