title: Skeletal muscle titin: physiology and pathophysiology.
abstract: Titins are a family of gigantic filamentous muscle proteins essential for muscle structure, function and development. Most of their sequence consists of repetitive modules of two superfamily motifs, immunoglobulin and fibronectin, interspersed with unique sequences. A special feature is that many regions are differentially expressed in different muscle types, providing unique characteristics. Titin is evolutionarily old, and many regions are highly conserved. Most mutations that alter titin's characteristics seem to be incompatible with life, since very few associated genetic diseases have been described. The autoimmune response against titin in the paraneoplastic form of myasthenia gravis is discussed.
authors.affiliation: Department of Neurology, Haukeland University Hospital, Bergen, Norway. gske@haukeland.no
authors.forename: G O
authors.initials: GO
authors.lastname: Skeie
mesh_terms: D000818:Animals; D001323:Autoantibodies / Q000276:immunology; D002875:Chromosomes / Q000378:metabolism; D064211:Connectin; D004548:Elasticity; D006801:Humans; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics / Q000276:immunology / Q000502:physiology*; D018482:Muscle, Skeletal / Q000166:cytology / Q000502:physiology* / Q000503:physiopathology*; D009157:Myasthenia Gravis / Q000276:immunology / Q000503:physiopathology; D010257:Paraneoplastic Syndromes / Q000276:immunology / Q000503:physiopathology; D011494:Protein Kinases / Q000737:chemistry / Q000235:genetics / Q000276:immunology / Q000502:physiology*
chemical_list: D001323:Autoantibodies; D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D011494:Protein Kinases