Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems

Myofibrillar myopathies (MFM) are a group of chronic muscle diseases pathophysiologically characterized by accumulation of protein aggregates and structural failure of muscle fibers. A subtype of MFM is caused by heterozygous mutations in the filamin C (<i>FLNC</i>) gene, exhibiting prog...

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Bibliographic Details
Main Authors: Dominik Sellung, Lorena Heil, Nassam Daya, Frank Jacobsen, Janine Mertens-Rill, Heidi Zhuge, Kristina Döring, Misagh Piran, Hendrik Milting, Andreas Unger, Wolfgang A. Linke, Rudi Kley, Corinna Preusse, Andreas Roos, Dieter O. Fürst, Peter F. M. van der Ven, Matthias Vorgerd
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Cells
Subjects:
myofibrillar myopathy
cardiomyopathy
filamin c
protein quality system
chaperone-assisted selected autophagy
protein folding
Online Access:https://www.mdpi.com/2073-4409/12/9/1321

Internet

https://www.mdpi.com/2073-4409/12/9/1321

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