Figure 4.

(a) Sequence chromatograms showing the complete segregation of the missense mutation c.895G>A in family PKMR60 in the patients (left), the healthy sibling (middle) and both parents (right). Only one healthy sibling (Vl-6) is homozygous for the wild-type allele. (b) Sequence chromatograms of both affected members and the mother of family M105 show c.527T>G in AIMP1 in a heterozygous (IV-2) and homozygous (V-1 and V-5) state compared with the wild-type sequence. A full color version of this figure is available at the European Journal of Human Genetics journal online.