Filaminopathy type C

Author:

Kopishinskaia S. V.1,Lesnikova A. A.2,Abramova D. I.3,Velichko I. A.4

Affiliation:

1. Kirov State Medical University; First Genetics Co., Skolkovo Innovation Center

2. Privolzhskii Research Medical University

3. Stomline-Detstvo Co.

4. Kuban State Medical University

Abstract

Filamin is an actin-binding protein that, by forming flexible molecular cross-links, stabilizes the three-dimensional F-actin networks and gives them the mechanical properties of a gel. It is represented by three isoforms: filamine A (FLNA), filamin B (FLNB), and filamin C (FLNC), derived from 3 homologous genes. Laminopathies caused by mutations in the FLNA, FLNB, and FLNC genes represent an extensive allelic series of diseases. The review discusses in detail the genotype-phenotypic correlation of all types of phylaminopathies. The neuromuscular and cardiac clinic of C-type phylaminopathy is described in detail. Three variants of C phylaminopathy known at the moment are analyzed.

Publisher

Alfmed LLC

Subject

Materials Chemistry,Economics and Econometrics,Media Technology,Forestry

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