| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| PKP2 | 1 | Q59L | c.176A>T | p.Gln59Leu |
0/0
| | | The interaction with desmoplakin is disrupted, while the localization to the plasma membrane is unaffected, as shown by using a cell culture model. |
Mutation details
|
| PKP2 | 1 | Q62K | c.184C>A | p.Gln62Lys |
0/0
| | | The interaction with desmoplakin is disrupted, while the localization to the plasma membrane is unaffected, as shown by using a cell culture model. |
Mutation details
|