Article
Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.
Heart rhythm - 1 Aug 2014
Pambrun Thomas, Mercier Aurélie, Chatelier Aurélien, Patri Sylvie, Schott Jean-Jacques, Le Scouarnec Solena, Chahine Mohamed, Degand Bruno, Bois Patrick
Abstract excerpt
BACKGROUND: Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in the DMPK gene, can cause cardiac conduction disorders and sudden death. These cardiac manifestations are similar to those observed in loss-of-function SCN5A mutations, which are also responsible for Brugada...
Topics
- Adolescent
- Brugada Syndrome
- Cells, Cultured
- DNA Mutational Analysis
- Electrocardiography
- Female
- Genetic Predisposition to Disease
- Genotype
- Humans
- Mutation, Missense
- Myotonic Dystrophy
- NAV1.5 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques
- Pedigree