The muscle mechanical basis of freeman-sheldon syndrome

We have engineered the first animal models to study Freeman-Sheldon Syndrome (FSS) by expressing transgenic myosin containing FSS-causing point mutations Y583S and T178I in Drosophila. We studied the mutations’ effects on indirect flight muscle (IFM) and jump muscle mechanical properties to elucidate possible mechanisms of disease. We found that increased muscle stiffness leads to diminished power production.