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 familial and sporadic myopathies and cardiomyopathies with marked clinical variability....

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Bibliografiske detaljer
Udgivet i:Acta Neuropathol Commun
Main Authors: Schuld, Julia, Orfanos, Zacharias, Chevessier, Frédéric, Eggers, Britta, Heil, Lorena, Uszkoreit, Julian, Unger, Andreas, Kirfel, Gregor, van der Ven, Peter F. M., Marcus, Katrin, Linke, Wolfgang A., Clemen, Christoph S., Schröder, Rolf, Fürst, Dieter O.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7650280/
https://ncbi.nlm.nih.gov/pubmed/32887649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-01001-9
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