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Article

Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.

International journal of molecular sciences - 25 Apr 2024

Gallego-Delgado María, Cámara-Checa Anabel, Rubio-Alarcón Marcos, Heredero-Jung David, de la Fuente-Blanco Laura, Rapún Josu, Plata-Izquierdo Beatriz, Pérez-Martín Sara, Cebrián Jorge, Moreno de Redrojo Lucía, García-Berrocal Belén, Delpón Eva, Sánchez Pedro L, Villacorta Eduardo, Caballero Ricardo

Abstract excerpt

A novel rare mutation in the pore region of Nav1.5 channels (p.L889V) has been found in three unrelated Spanish families that produces quite diverse phenotypic manifestations (Brugada syndrome, conduction disease, dilated cardiomyopathy, sinus node dysfunction, etc.) with variable penetrance among families. We clinically characterized the carriers and recorded the Na+ current (INa) generated by p.L889V and native...

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Identifiers

PMID: 38731905
DOI: 10.3390/ijms25094686
PMCID: PMC11083067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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