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. Author manuscript; available in PMC: 2012 Nov 12.
Published in final edited form as: Clin Pharmacol Ther. 2011 Oct;90(4):496–499. doi: 10.1038/clpt.2011.192

Figure 2.

Figure 2

Algorithm for interpreting a positive genetic test for arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC). Radical, non-missense mutations that result in premature protein truncation are likely to be ARVC-associated. Missense mutations are of uncertain disease relevance; however, missense mutations identified in Caucasian patients, mutations localized with hot-spot domains within DSP-encoding desmoplakin and DSG2-encoding desmoglein 2 or more conserved residues of PKP2-encoding plakophilin 2 and DSG2 are more likely to be associated with ARVC pathogenicity.