Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Abstract Filamin C (FLNc) is mainly expressed in striated muscle cells where it localizes to Z-discs, myotendinous junctions and intercalated discs. Recent studies have revealed numerous mutations in the FLNC gene causing familial and sporadic myopathies and cardiomyopathies with marked clinical var...

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Bibliographic Details
Main Authors: Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil, Julian Uszkoreit, Andreas Unger, Gregor Kirfel, Peter F. M. van der Ven, Katrin Marcus, Wolfgang A. Linke, Christoph S. Clemen, Rolf Schröder, Dieter O. Fürst
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Acta Neuropathologica Communications
Subjects:
Myofibrillar myopathy
Mouse model
Filamin
Myofibrillar lesions
Muscle damage
BAG3
Online Access:http://link.springer.com/article/10.1186/s40478-020-01001-9

Internet

http://link.springer.com/article/10.1186/s40478-020-01001-9

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