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...
Topics
- Brugada Syndrome
- Genes, Recessive
- HeLa Cells
- Heterozygote
- Humans
- Loss of Function Mutation
- Male
- Middle Aged
- Phenotype
- TRPM Cation Channels