DNA automatic sequence of the L-subunit IRE in a normal member (left) and the proband (right) of family 1. The highly conserved 5′-TGC-3′ motif is shown. In the affected member, an ambiguity can be seen (r/N) resulting from a G to A change present in the heterozygous state: overlapping signals corresponding to both guanine and adenine are visible. By contrast, only the guanine signal is visible in the normal DNA.