Skip to main content
. Author manuscript; available in PMC: 2015 Jul 1.
Published in final edited form as: Trends Cardiovasc Med. 2014 Feb 22;24(5):184–190. doi: 10.1016/j.tcm.2014.02.001

Figure 5.

Figure 5

PKP2 mutations associate with Brugada Syndrome and with reduced sodium current. Top left: Representative ECG showing ST elevation, diagnostic for Brugada Syndrome, in one of the five patients carriers of missense mutations on the PKP2 gene, and correspondent electropherograms showing the specific amino acid substitution R635Q. Bottom left: Sodium current amplitude recorded in HL1 cells silenced for PKP2 (PKP2-KD) transfected with the mutant (red), an empty vector (blue) or wild type PKP2 (black). Right: pedigree of the family showing co-segregation between the PKP2 mutation and the clinical phenotype. Reproduced with permission from Cerrone et al, 2013.