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Figure 1 This myosin-binding protein C (MyBPC) pedigree shows generational skipping of the hypertrophic cardiomyopathy (HCM) phenotype. Note that the adult woman (II.2) without left ventricular hypertrophy (LVH) on the echocardiogram (the 12-lead electrocardiogram was also normal) was, nevertheless, the offspring of a father with LVH and the HCM mutant gene (I.2) and also passed the HCM gene to a son with LVH (III.4); a genetically affected sister also has HCM with LVH (II.3). Circles = females; squares = males; solid symbols = genetically affected relatives with LVH (representing HCM phenotype); open symbols = genetically affected relatives without LVH; stippled symbols = family members in whom clinical and genetic status was undetermined. The presence (+) or absence (–) of the MyBPC mutation is indicated for persons in whom deoxyribonucleic acid was tested for the mutation segregating in their family.





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