Figure 3.

MYBPC1 missense mutations in two families with distal arthrogryposis type 1. Chromatograms showing missense mutations in proband of family 5432 (A) and 8039 (B). Both mutations result in amino acid substitutions at highly conserved residues as shown by multiple species alignment of MYBPC1 (skeletal muscle, slow-twitch) and MYBPC2 (skeletal muscle, fast-twitch) and MYBPC3 (cardiac). Also shown in (B) is a pedigree of family 8039 and clinical photographs of hand and foot contractures (congenital vertical talus) occurring in the proband.