Table 1. .
DSG2 Mutations
| Proband | Exon | Nucleotide | Amino Acid |
ARVD/C Criteriaa |
| A.III-1 | 3 | 134G→A | R45Q | Structural or functional right ventricular abnormality*, histopathologic right ventricular fibrofatty replacement*, ECG repolarization abnormality†, and diagnostic arrhythmias† |
| B.II-1 | 3 | 143 G→A | R48H | Structural or functional right ventricular abnormality*, ECG depolarization abnormality*, ECG repolarization abnormality†, and diagnostic arrhythmias† |
| B.II-1 | 8 | 915 G→A | W305X | |
| C.II-1 | 11 | 1517 G→A | C506Y | Structural or functional right ventricular abnormality†, ECG repolarization abnormality†, ECG depolarization abnormality†, and diagnostic arrhythmias† |
| D.II-4 | 15 | 2431 G→T | G811C | Family history*, ECG repolarization abnormality†, and structural or functional right ventricular abnormality† |
a
An asterisk (*) indicates that a major criterion is filled in the category; a dagger (†) indicates that a minor criterion is filled in the category.