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Article

Synemin-related skeletal and cardiac myopathies: an overview of pathogenic variants

5 Feb 2020

Abstract excerpt

This review analyzes data concerning patients with cardiomyopathies or skeletal myopathies associated with a variation in the intermediate filament (IF) synemin gene ( SYNM), also referred to as desmuslin ( DMN). Molecular studies demonstrate that synemin copolymerizes with desmin and vimentin IF and interacts with vinculin, α-actinin, α-dystrobrevin, dystrophin, talin, and zyxin. It has been found that synemin...

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Identifiers

PMID: 32023076
DOI: 10.1152/ajpcell.00485.2019

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