Figure 1.

(A) Pedigree of the studied family, with squares and circles symbolising males and females, respectively. Black and while shapes indicate affected and nonaffected statuses, respectively. A small black circle in a white shape indicates carrier status. CGG size is indicated by numbers below each participant’s ID; (B) Capillary electrophoresis sizing using standard PCR, as previously described [14], with allele sizes indicated by numbers superimposed on the panels.