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. Author manuscript; available in PMC: 2016 Mar 3.
Published in final edited form as: Nature. 2015 Aug 10;525(7567):109–113. doi: 10.1038/nature14670

Figure 1. Pedigrees, mutation, and phenotype.

Figure 1

Black symbols = MVP affecteds, gray = unknown, Arrows = probands, If no genotype is shown, the individuals were unavailable for study. (A). Pedigree linked to chromosome 11. #= Individuals under 15 years of age, *- individuals sequenced. Genotypes c. 7538G>A (R2513H) of DCHS1 mutation are shown. (B) DNA sequence of c.7538G>A (p.R2513H). (C) Two-dimensional echocardiographic long-axis view of Family 1 proband. Dashed line marks mitral annulus. (D,E) Family 2 and 3 pedigrees. Genotype c.6988C>T (p.R2330C) shown. (F) DNA sequence c. 6988C>T (p.R2330C) (G) Two-dimensional echocardiographic long-axis view of Family 2 proband.