Figure 1

a) Melting curves of exon 19 of the MYBPC3 gene (NM_000256). b) Difference plot of the melting curves of exon 19 of the MYBPC3 gene. The arrows in both figures indicate the wild-type (wt) profile and patient 16 respective variations. Two healthy control individuals were used has a reference curve. c) Chromatogram analysis resulting from sequencing exon 19 of the MYBPC3 gene in patient 16 with the c.1945insT, 1941-1946delCCTGGA, p.Pro647fs. This mutation was also present in patient 17. d) Melting curves of exon 22(1) of the MYH7 gene (NM_000257). e) Difference plot of the melting curves of exon 22(1) of the MYH7 gene. The arrows in both figures indicate the wild-type (wt) profile and patient 13 respective variations. Five healthy control individuals were used has a reference curve. f) Chromatogram analysis resulting from sequencing exon 22 of the MYH7 gene in patient 13. g) Polyphen analysis of p.Ala862Val genetic variation http://genetics.bwh.harvard.edu/pph2/. h) Conservation across species of codon 862 of the β-myosin protein (source: http://www.uniprot.org/). The box shows the amino acid changed by the MYH7 c.2585 C > T mutation. [BOVIN - Bos Taurus; HUMAN - Homo sapiens; MOUSE - Mus musculus; RAT - Rattus norvegicus; PIG - Sus scrofa].