The giant muscle filament protein titin is encoded by a single gene consisting of 364 exons.
In the past, because of its enormous size and complexity, only few titin mutations were
discovered causing different cardiac and skeletal muscle conditions; however, the overall
role for heritable diseases, in particular dilated cardiomyopathy (DCM), has been
significantly underestimated. Recently performed systematic studies using next-generation
sequencing (NGS) recognized TTN as the major human disease gene for DCM, but at the …