Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

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...

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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2012
Teme:
Original Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3437028/
https://ncbi.nlm.nih.gov/pubmed/22961544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws200
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