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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Detalles Bibliográficos
Autores principales: Velardo, Daniele, D'Angelo, Maria Grazia, Citterio, Andrea, Panzeri, Elena, Napoli, Laura, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo Pietro, Ronchi, Dario, Bassi, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315448/
https://www.ncbi.nlm.nih.gov/pubmed/35903116
http://dx.doi.org/10.3389/fneur.2022.930039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315448/
https://www.ncbi.nlm.nih.gov/pubmed/35903116
http://dx.doi.org/10.3389/fneur.2022.930039

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