Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiac disease predominantly caused by variants in desmosome genes. Variants in human Desmoglein-2 (DSG2) gene can cause ARVC with incomplete penetrance. However, it remains unknown whether ARVC would penetrate by distal myopathy.

Source: International Journal of Cardiology - October 6, 2019 Category: Cardiology Authors: Peng Chen, Zongzhe Li, Bo Yu, Fei Ma, Xianqing Li, Dao Wen Wang Source Type: research