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Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.
Lin Y, Zhang Q, Zhong ZA, Xu Z, He S, Rao F, Liu Y, Tang J, Wang F, Liu H, Xie J, Wu H, Wang S, Li X, Shan Z, Deng C, Liao Z, Deng H, Liao H, Xue Y, Chen W, Zhan X, Zhang B, Wu S. Lin Y, et al. Among authors: liu y, liu h. Cardiology. 2017;138(1):41-54. doi: 10.1159/000462962. Epub 2017 Jun 3. Cardiology. 2017. PMID: 28578331
Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.
Lin Y, Huang J, He S, Feng R, Zhong Z, Liu Y, Ye W, Li X, Liao H, Fei H, Rao F, Shan Z, Deng C, Zhan X, Xue Y, Liu H, Zhang B, Wang K, Zhang Q, Wu S, Lin X. Lin Y, et al. Among authors: liu y, liu h. BMC Med Genet. 2018 Aug 21;19(1):148. doi: 10.1186/s12881-018-0580-2. BMC Med Genet. 2018. PMID: 30129429 Free PMC article.
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