Joshua Frase Foundation

The goal and purpose of this ENMC workshop was to establish an international database of TTN (Titin gene) mutations, variations and their clinical presentations, to be able to determine if particular genetic variants of the gene are the cause of disease. Titin is a giant protein, that functions as a molecular spring responsible for the structural integrity and passive elasticity of the muscle. TTN mutations have to date been reported to be the cause of various diseases collectively termed titinopathies, including a range of skeletal muscle and cardiac diseases.