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Article

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease.

Journal of the American College of Cardiology - 19 Feb 2003

Probst Vincent, Kyndt Florence, Potet Franck, Trochu Jean-Noel, Mialet Guy, Demolombe Sophie, Schott Jean-Jacques, Baró Isabelle, Escande Denis, Le Marec Hervé

Abstract excerpt

OBJECTIVES: The goal of this study was to investigate the genotype-to-phenotype relationship between SCN5A gene mutation and progressive cardiac conduction defect in order to gain insights into the pathophysiologic mechanisms of the disease. BACKGROUND: Progressive cardiac conduction defect is a frequent disease commonly attributed to degeneration and fibrosis of the His bundle and its branches. In a French...

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PMID: 12598077
DOI: 10.1016/s0735-1097(02)02864-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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