Figure 4. The sequence chromatograms of families PKRP161 and PKRP183. A: Unaffected individual 20 of PKRP161 heterozygous. B: Affected individual 17 homozygous for a single base change: c.1655G>A, leading to an Arginine to Glutamine substitution: p.R552Q. C: Unaffected individual 11 of family PKRP183 heterozygous. D: Affected individual 7 homozygous for a base change: c.1160 C>T, leading to Proline to Leucine substitution: p.P387L.