Immunoblot shows RPL19 protein in all family members (with and without deletion (c. 562_563delTT) in the RPL19 gene). RPL19 mutant protein was detected in the probands and his clinically unaffected mother and brother with RPL19 deletion. Mut, mutation; Pt, patient; M*, mother; B*, brother; F, father; Sa, sister a; Sb, sister b.