Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs(*)221) in a single copy of the SCN5A gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular arrhythmia successfully treated with DC-shock an...

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Enregistré dans:
Détails bibliographiques
Publié dans:Front Genet
Auteurs principaux: Micaglio, Emanuele, Monasky, Michelle M., Ciconte, Giuseppe, Vicedomini, Gabriele, Conti, Manuel, Mecarocci, Valerio, Giannelli, Luigi, Giordano, Federica, Pollina, Alberto, Saviano, Massimo, Pozzi, Paolo R., Di Resta, Chiara, Benedetti, Sara, Ferrari, Maurizio, Santinelli, Vincenzo, Pappone, Carlo
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2019
Sujets:
Genetics
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565861/
https://ncbi.nlm.nih.gov/pubmed/31231430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00547
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