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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |