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Article

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.

European journal of medical genetics - 1 Jun 2019

Janin Alexandre, Bessière Francis, Georgescu Tudor, Chanavat Valérie, Chevalier Philippe, Millat Gilles

Abstract excerpt

Cardiac channelopathies, mainly Long QT and Brugada syndromes, are genetic disorders for which genotype/phenotypes relationships remains to be improved. To provide new insights into the Brugada syndrome pathophysiology, a mutational study was performed on a 64-year-old man presented with isolated exertional dyspnea (NYHA class: II-III), hypertension, chronic kidney disease, coronary disease, an electrocardiogram...

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Identifiers

PMID: 30142439
DOI: 10.1016/j.ejmg.2018.08.008

Genes

TRPM4

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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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