Figure 1. Mutation analysis of MYOC in 48 JOAG patients

Genomic sequence of the MYOC gene from normal individuals (A, C, E, G); two missence mutations at position 136 and 158, heterozygous c.136C>T (B) and c.158T>C (D). Two of the MYOC mutations, c.604+228A>T (F) and c.1515+73G>C (H), respectively are heterozygous. Vertical arrows indicate changes of the nucleotide. R donates reverse sequence. WT donates wild type.