Figure 2.

Functional characterization of the donor splice‐site mutation in the SMPX gene. (a) Primer design for RT‐PCR and agarose gel electrophoresis of PCR products with mutant (III‐2) and control tissues. (b) Sanger sequencing of heart and skeletal muscle (III‐2) with primer 1 and control skeletal muscle with primer 2. (c) Sanger sequencing of the PCR products labeled as 1, 2, and 3 in (a). (d) The new forms of splicing due to the splice‐site mutation. (e) Location of PTC and SMPX mRNA expression assay by qPCR