Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …

The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an
abundant structural, sensory, and signaling filament in muscle) as a common cause of end …

The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

The thin and thick filaments of muscle sarcomeres are interconnected by the giant protein
titin, which is a scaffolding filament, signaling platform, and provider of passive tension and …

The 364 exon TTN gene encodes titin (TTN), the largest known protein, which plays key
structural, developmental, mechanical, and regulatory roles in cardiac and skeletal muscles …

The giant elastic protein titin is a determinant factor in how much blood fills the left ventricle
during diastole and thus in the etiology of heart disease. Titin has been identified as a target …

Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading
indication for heart transplantation. DCM is often familial, and the most common genetic …

The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from
the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been …