Figure 2

Mutation analysis of the SGCG gene in patient 1. Amplification products of exons 5, 6, and 7 are shown (c; control, p: patient) in the upper part of the figure. Although PCR amplification of eight exons of the SGCG gene was conducted, no products were obtained from the fragment encompassing exon 6 (Exon 6 p). For the other exons, the products of the SGCG gene met size expectations. Results of SGCG mRNA analysis are shown in the lower part of the figure. RT-PCR (c; control, p: patient) was used to analyze the muscle mRNA. The fragment encompassing exons 5 to 8 was amplified as a small-sized product in patient 1. Sequencing of the product showed a complete absence of exon 6. It was concluded that patient 1 had a homozygous deletion of exon 6 in the SGCG gene.