caa a22 4500 475846583 CHVBK 20180406123915.0 cr unu---uuuuu 170329e20001001xx s 000 0 eng 10.1007/PL00000642 doi (NATIONALLICENCE)springer-10.1007/PL00000642 Skeie G.O. Department of Neurology, Haukeland University Hospital, 5021 Bergen (Norway), Fax +47 55 97 51 65, e-mail: gske@haukeland.no, NO aut Skeletal muscle titin: physiology and pathophysiology [Elektronische Daten] [G.O. Skeie] 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. Birkhäuser Verlag Basel,, 2000 Key words. Titin nationallicence titin antibodies nationallicence muscle elasticity nationallicence sarcomere assembly nationallicence myasthenia gravis nationallicence thymoma nationallicence https://doi.org/10.1007/PL00000642 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00000642 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Skeie G.O. Department of Neurology, Haukeland University Hospital, 5021 Bergen (Norway), Fax +47 55 97 51 65, e-mail: gske@haukeland.no, NO aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer