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Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias
OBJECTIVE: To characterize the cardiac phenotype associated with the novel pathogenic variant (c.1526del) of LMNA gene, which we identified in a large, six-generation family. METHODS AND RESULTS: A family tree was constructed. The clinical data of living and deceased family members were collected. D...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350631/ https://www.ncbi.nlm.nih.gov/pubmed/37465451 http://dx.doi.org/10.3389/fcvm.2023.1109008 |