Fig. 4

MYH3 mutations causing distal arthrogryposis. a Scheme of the embryonic myosin molecule showing the sites of different mutations causing Freeman-Sheldon syndrome (FSS, above) and Sheldon-Hall syndrome (SHS, below). Note that most mutations localize to the head domain of the myosin molecule, and that mutations causing FSS differ from those causing SHS. b A model of the actin-myosin complex. A portion of the actin filament comprising five actin monomers is shown as a dark gray ribbon. Myosin heavy chain (Heavy chain), essential light chain (ELC), and regulatory light chain (RLC) are shown as blue, orange, and green ribbons, respectively. MYH3 mutations causing distal arthrogryposis are shown with oversized space-filling atoms, with FSS mutations colored red and SHS mutations yellow (modified from [80])