Entry Name Type Loss of function
Gene Organism hsa_var Human gene variants (Homo sapiens)
Variation Network nt06539 Cytoskeleton in muscle cells
Disease H00593 Limb-girdle muscular dystrophy
H00595 Myofibrillar myopathies
Reference Authors Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P
Title Increasing Role of Titin Mutations in Neuromuscular Disorders.
Journal Reference Authors Tharp CA, Haywood ME, Sbaizero O, Taylor MRG, Mestroni L
Title The Giant Protein Titin's Role in Cardiomyopathy: Genetic, Transcriptional, and Post-translational Modifications of TTN and Their Contribution to Cardiac Disease.
Journal Reference Authors Tasca G, Udd B
Title Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.
Journal Reference Authors Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A
Title Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
Journal LinkDB All DBs
