Key result
Novel MYH6 mutation linked to early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.
Case Report
Exome sequencing identified a novel MYH6 mutation associated with early-onset sinus node dysfunction and ventricular arrhythmias, highlighting the utility of genetic investigations in unexplained cardiac arrest.
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May inform targeted genetic evaluation in unexplained familial arrest; extends MYH6 phenotypes but remains hypothesis-generating.
Lam et al. (2015) conducted a case report in Early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest. Exome sequencing was evaluated on Identification of a novel mutation in the MYH6 gene. Exome sequencing identified a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.
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