Article
The role of titin in muscular disorders.
Annals of medicine - 1 Jan 2003
Hackman J Peter V, Vihola Anna K, Udd A Bjarne
Abstract excerpt
Titin, the biggest single (poly) peptide found in humans, and throughout nature so far, was long considered as a good candidate for inherited muscle diseases. However, disease-causing defects were not known until recently, when this central sarcomeric protein was associated with human skeletal tibial muscular dystrophy (TMD/LGMD2J), dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Several...
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