Article
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Brain : a journal of neurology - 1 Sept 2012
Kley Rudolf A, Serdaroglu-Oflazer Piraye, Leber Yvonne, Odgerel Zagaa, van der Ven Peter F M, Olivé Montse, Ferrer Isidro, Onipe Adekunle, Mihaylov Mariya, Bilbao Juan M, Lee Hee S, Höhfeld Jörg, Djinović-Carugo Kristina, Kong Kester, Tegenthoff Martin, Peters Sören A, Stenzel Werner, Vorgerd Matthias, Goldfarb Lev G, Fürst Dieter O
Abstract excerpt
Mutations in FLNC cause two distinct types of myopathy. Disease associated with mutations in filamin C rod domain leading to expression of a toxic protein presents with progressive proximal muscle weakness and shows focal destructive lesions of polymorphous aggregates containing desmin, myotilin and other proteins in the affected myofibres; these features correspond to the profile of myofibrillar myopathy. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.