Article details

Pilichou et al. Journal of Experimental Medicine 2009;206:1787-802.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG27N266Sc.797A>Gp.Asn266Ser 0/0 Previously reported Transgenic mice overexpressing the mouse homologue of the DSG2-N266S mutation recapitulate the pathognomonic features of the human disease, including sudden death, spontaneous ventricular arrhythmias, ECG characteristics of conduction slowing, cardiac dysfunction, ventricular dilatation and aneurysms, myocardial atrophy, and fibrosis. Mutation details