Figure 2. Pedigree figures of twelve families showing allele segregation. The squares and the circles represent males and females, respectively. The black-filled symbols indicate patients with A/M, and the diagonal line indicates a deceased family member. Above each pedigree the candidate variant is shown, while the genotype for the variant allele is marked below each of the participating individuals. “+/+” indicates homozygous wild allele, “+/−” indicates heterozygous variant, and “−/−” indicates homozygous mutant allele.