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Figure 3 Pedigrees of families with hypertrophic cardiomyopathy. Symbols denote gender and disease status: box = male; circle = female; darkened = full phenotype of hypertrophic cardiomyopathy; quarter = only discrete signs of the disease; clear = unaffected; slashed = deceased; SD = sudden death; + = genetically affected; - = genetically unaffected. (A) Pedigrees of index-patients (DNA 45, 70, 1893, and 1119) carrying missense mutations (R282W, G507R, C566R, V1115I) and pedigree of index-patient 7 carrying in-frame splicing mutation (IVS27+1G>A). (B) Pedigrees of index-patients (DNA 164, 6, 314, 8, 1206) carrying small deletions and insertions (delC390, insG791, insAA1042, delG1047, and insTTCA1231). (C) Pedigrees of index-patients (DNA 169, 1331, and 14) carrying splice mutations (IVS7+1G>A, IVS2-2A>G, IVS27+G>A) and pedigrees of index-patients (DNA 315 and 39) carrying nonsense mutations (Q1233X).
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