Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
By A. Rampazzo, A. Nava, S. Malacrida, G. Beffagna, B. Bauce, V. Rossi, R. Zimbello, B. Simionati, C. Basso, G. Thiene and 2 more. American Journal of Human Genetics, 2002
672 citations recorded by the source corpus.
Subfields: Cardiology and Cardiovascular Medicine, Orthopedics and Sports Medicine
View Paper: https://www.semanticscholar.org/paper/6d141e76846d739246fa54cf2b5fdc686cc520f9
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In Cardiology and Cardiovascular Medicine
Citations in the corpus
- 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. (2019, background): “(100) Other genes that have been identified in ACM with insufficient or conflicting evidence are: ABCC9,(112) TGFB3,(113) TTN,(114) CTNNA3,(115) sarcomeric genes (MYH7, MYBPC3),(116,117) SCN3B,(117) CDH2,(118,119) TJP1.”