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Figure 3 Mutational analyses of TCAP and MYBPC3 in a Korean family. (a) Pedigree of a Korean family with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Right-half-filled and left-half-filled symbols indicate DCM and HCM, respectively. Plus symbols to the right and left of individual IDs represent TCAP (E132Q) and MYBPC3 (S236G) mutations, respectively. A TCAP mutation was found in I-2, II-5, and III-4, whereas an MYBPC3 mutation was found in I-3, I-4, II-3, III-1, and III-2. Open symbols represent individuals without cardiac disease phenotypes. SCD = sudden cardiac death (II-4: suffered from heart failure and died suddenly at the age of 26 years). (b) Direct sequencing data of TCAP exon 2 from a control and the proband (SM728 II-5). Codon 132 of the control was GAG (Glu), whereas that of SM728 was heterozygous for a CAG mutation (Gln). (c) Direct sequencing data of MYBPC3 exon 6 from the mother of the proband (SM728 I-3). Codon 236 of the control was AGC (Ser), whereas that of the mother was heterozygous for a GGC mutation (Gly).
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