In addition, several proteins that take part in the organization of the cytoskeleton, such as chaperones [T-complex protein 1 and HSPβ1 (heat-shock protein β1)], LIM domain containing or binding proteins, a septin and myotilin, were affected, suggesting that alterations of the cytoskeleton may be involved in the pathogenesis of EE. Here, MYOT is linked to ethylmalonic encephalopathy.