Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
Xiaoping LinYuankun MaZhejun CaiQiyuan WangLihua WangZhaoxia HuoDan HuJian'an WangMeixiang XiangPublished in: BMC cardiovascular disorders (2020)
We infer that the novel c.832delG variant in DSP was associated with AC in this family, likely through Wnt/β-catenin signaling pathway.