Figure 3. The CAPN5 gene harbors mutations in exon 6 of ADNIV subjects.

A. The ADNIV locus was previously mapped to chromosome 11q13 (green bar). STRP and SNP array mapping narrowed the interval (red bar). B. CAPN5 gene structure is composed of 13 exons. C. Chromatogram of normal CAPN5 DNA sequence in exon 6. D–E. Chromatograms of ADNIV subjects shows mutations in CAPN5 exon 6. F. SSCP distinguishes between normal sequence and ADNIV mutations.