De novo mutation in desmin gene causing dilated cardiomyopathy requiring ECMO treatment: A clinical report
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. The novel Desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death;Brodehl;Circ. Cardiovasc. Genet.,2013
2. Molecular insights into cardiomyopathies associated with desmin (DES) mutations;Brodehl;Biophys. Rev.,2018
3. Restrictive cardiomyopathy is caused by a Novel Homozygous Desmin (DES) mutation p.Y122H leading to a severe filament assembly defect;Brodehl;Genes (Basel),2019
4. The N-terminal part of the 1A domain of Desmin is a hot spot region for putative pathogenic DES mutations affecting filament assembly;Brodehl;Cells.,2022
5. Desminopathies: pathology and mechanisms;Clemen;Acta Neuropathol.,2013
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