Article
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.
Human molecular genetics - 1 Dec 2010
Charton Karine, Danièle Nathalie, Vihola Anna, Roudaut Carinne, Gicquel Evelyne, Monjaret François, Tarrade Anne, Sarparanta Jaakko, Udd Bjarne, Richard Isabelle
Abstract excerpt
The dominant tibial muscular dystrophy (TMD) and recessive limb-girdle muscular dystrophy 2J are allelic disorders caused by mutations in the C-terminus of titin, a giant sarcomeric protein. Both clinical presentations were initially identified in a large Finnish family and linked to a founder mutation (FINmaj). To further understand the physiopathology of these two diseases, we generated a mouse model carrying...
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