| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSP | 24 | S2542fsX2560 | c.7622delG | p.Lys2542Serfs19 |
0/0
| Reported by Norgett et al | | Functional data: markedly decreased amounts of specific immunoreactive signal for desmoplakin, plakoglobin, and connexin43 at intercalated disks. The intermediate filament protein desmin failed to localize at intercalated disks |
Mutation details
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