From: Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report
ARV1 mutation | Mutation type | Patients | Patients with DEE38 (%) | Patients with DCM (%) | Patients who died (%) | References |
---|---|---|---|---|---|---|
p.G189R | ho/missense | 5 | 5 (100) | 2 (40) | 1 (20) | |
p.K59_N98del | ho/splice | 6 | 6 (100) | 0 (0) | 6 (100) | |
c.674-2A>T | ho/splice | 2 | 2 (100) | 0 (0) | 0 (0) | [6] |
p.S122Qfsstop7/ | ch/loss of | 2 | 2(100) | 1 (50) | 2 (100) | [8] |
p.W163stop | function | Â | Â | Â | Â | Â |
p.L185del | ho/deletion | 1 | 1 (100) | 1 (100) | 0 (0) | This study |
Total (%) | – | 16 (100) | 16 (100) | 4 (25) | 9 (56) | – |