| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| JUP | 12 | G680fsX690 | c.2040_2041delGT | p.Trp680GlyfsX11 |
0/0
| 4, 3TFC+, with Naxos Disease | | Functional data: reduced connexin43 expression at intercellular junctions, smaller and fewer gap junctions interconnecting ventricular myocytes on electron microscopy. Failure of mutant plakoglobin to localize normally at intercellular junctions. |
Mutation details
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