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

INTRODUCTION: Cardiac 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 d...

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Detalles Bibliográficos
Autores principales: Guevara-Ramírez, Patricia, Cadena-Ullauri, Santiago, Ibarra-Castillo, Rita, Laso-Bayas, José Luis, Paz-Cruz, Elius, Tamayo-Trujillo, Rafael, Ruiz-Pozo, Viviana A., Doménech, Nieves, Ibarra-Rodríguez, Adriana Alexandra, Zambrano, Ana Karina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070725/
https://www.ncbi.nlm.nih.gov/pubmed/37025686
http://dx.doi.org/10.3389/fcvm.2023.1141083

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070725/
https://www.ncbi.nlm.nih.gov/pubmed/37025686
http://dx.doi.org/10.3389/fcvm.2023.1141083

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