Article
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Human molecular genetics - 20 Dec 2015
Chevessier Frédéric, Schuld Julia, Orfanos Zacharias, Plank Anne-C, Wolf Lucie, Maerkens Alexandra, Unger Andreas, Schlötzer-Schrehardt Ursula, Kley Rudolf A, Von Hörsten Stephan, Marcus Katrin, Linke Wolfgang A, Vorgerd Matthias, van der Ven Peter F M, Fürst Dieter O, Schröder Rolf
Abstract excerpt
Filamin C (FLNC) mutations in humans cause myofibrillar myopathy (MFM) and cardiomyopathy, characterized by protein aggregation and myofibrillar degeneration. We generated the first patient-mimicking knock-in mouse harbouring the most common disease-causing filamin C mutation (p.W2710X). These heterozygous mice developed muscle weakness and myofibrillar instability, with formation of filamin C- and Xin-positive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.