Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

Filamin C is a large dimeric actin-binding protein, most prevalent in skeletal and cardiac muscle Z-discs, where it participates in sarcomere mechanical stabilization and intracellular signaling, interacting with numerous binding partners. Dominant heterozygous mutations of Filamin C gene cause seve...

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Bibliographic Details
Main Authors: Daniele Velardo, Maria Grazia D'Angelo, Andrea Citterio, Elena Panzeri, Laura Napoli, Claudia Cinnante, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Maria Teresa Bassi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Neurology
Subjects:
Filamin C
actin binding domain
distal myopathy
muscle electron microscopy
muscle magnetic resonance imaging
next generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.930039/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.930039/full

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