Genotype–phenotype correlation of LMNA variants involving the Arg541 residue: a case report with multimodality imaging and literature review

We present a case of atypical LMNA cardiomyopathy associated with the pathogenic variant p.Arg541Ser. The patient had early‐onset severe ventricular arrhythmias but atrioventricular conduction was normal. Segmental motion abnormalities and a large transmural scar, mainly apical and lateral, were fou...

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Detalles Bibliográficos
Autores principales: Di Marco, Andrea, Ruiz‐Cueto, María, Salazar‐Mendiguchía, Joel, Claver, Eduard, Roura, Gerard, Dallaglio, Paolo Domenico, Anguera, Ignasi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524116/
https://www.ncbi.nlm.nih.gov/pubmed/32667740
http://dx.doi.org/10.1002/ehf2.12776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524116/
https://www.ncbi.nlm.nih.gov/pubmed/32667740
http://dx.doi.org/10.1002/ehf2.12776

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