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Gene	Exon	Mutation	DNA Change	Protein Change	Controls	Patient	# Affected Relatives	Notes	Mutation details
DSG2	7	N266S	c.797A>G	p.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