Fig.2.

NM-CGH profile of the TMP3 gene. The DNA sample of the proband shows a 17–21 kb homozygous deletion in chromosome region 1q21.3 removing TPM3 exons 1a and 2b as well as the promoter of the isoform. The deletion covers also the first two exons of MIR190B as well as the last two exons of C1orf189. The genes, exons and their orientation are indicated in the schematic overview in the lower part of the figure. The exons expressed in all TPM3 isoforms are marked with dark blue, exons not expressed in striated muscle are marked with white and alternatively spliced exons present in the striated muscle isoform are marked with pale blue colour. TPM3 geneID:7170, concerned protein isoform Tpm3.12st (a.b.b.a.).