Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation | Acta Neuropathologica Communications | Full Text

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation | Acta Neuropathologica Communications | Full Text

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

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...

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 and Dieter O. Fürst

Citation:Acta Neuropathologica Communications 2020 8:154

Content type:Research

 

Published on: 4 September 2020

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