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. 2012 Aug 15;21(3):294–300. doi: 10.1038/ejhg.2012.173

Figure 1.

Figure 1

Two missense mutations in the MYPN gene detected in a population of patients with DCM. (a–c) Identification of the myopalladin mutation p.R955W in a 44-year-old male DCM patient. DNA sequencing demonstrated the presence of a heterozygous nucleotide substitution in exon 13, resulting in an amino-acid exchange in position 955 (a). The p.R955W mutation was confirmed by means of denatured gradient gel electrophoresis (DGGE, b) and restriction fragment length polymorphism analysis (RFLP) using MspI (c). (d–f) Genetic analyses demonstrating the presence of a p.P961L mutation in a 33-year-old male DCM patient. The C>T nucleotide exchange in the corresponding codon shown in an electropherogram (d) was confirmed using DGGE (e) and RFLP with BfaI (f). As controls, DNA samples from other DCM patients were included in the respective gels, with the index patient marked with an arrow.