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. 2019 Oct 16;20(6):5229–5238. doi: 10.3892/mmr.2019.10754

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Copyright: © Wang et al.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Figure 3. — (A) Pedigree of the family with phenotypic and genotypic information. Male and female family members are indicated by squares and circles, respectively. Solid symbols represent individuals diagnosed with HCM, and unavailable individuals are represented by open symbols. In addition, the proband is marked with a black arrow. The genotype for each individual is noted below the symbol, where available. Absence of mutations is indicated by a ‘−’ sign. AV, MYH7-A934V; EK, MYH7-E1387K. (B) MYH7-A934V and (C) MYH7-E1387K mutations. Conservation of the mutated site of (D) MYH7-A934 and (E) E1387. Both sites are highly conserved among different species. MYH7, β-myosin heavy chain (MHC) 7; HCM, hypertrophic cardiomyopathy.