Figure 1. Pedigrees of the 5 analysed families.

The photographs of patients A-1, B-1, B-2, C-1, C-2, and D-1 are depicted under the corresponding symbols. * represents non tested subjects. White squares and circles represent family members with no mutation in GYG1 gene. Black squares and circles represent homozygote or compound heterozygote family members. Half black squares and circles represent heterozygote family members.