| 1 | ARVDC5, TMEM43 |
| Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. | |
| Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH. | |
| Clin Genet 80(3):256-64. doi: 10.1111/j.1399-0004.2011.01623.x. Epub 2011 Jan 24. 2011 | |
| 2 | TMEM43, ARVD5 |
| Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. | |
| Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. | |
| Am J Hum Genet 82(4):809-21. Epub 2008 Feb 28. 2008 | |