Associated Papers
Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report.
Wang T et al.
Bmc Pediatrics, 2025
Functional impact of the head domain variants of DES (Desmin) on filament assembly.
Voß S et al.
Genes & Diseases, 2025
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Single coronary artery presenting dilated cardiomyopathy and hyperlipidemia with the SCN5A and APOA5 gene mutation: A case report and review of the literature.
Hu X et al.
Frontiers in Cardiovascular Medicine, 2023
Case report: A new de novo mutation of the Troponin T2 gene in a Chinese patient with dilated cardiomyopathy.
Yang H et al.
Frontiers in Cardiovascular Medicine, 2023
Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.
Huang YS et al.
The Journal of International Medical Research, 2021
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.
Brodehl A et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2019
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.
Fan P et al.
Chinese Medical Journal, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Functional studies can contribute to predict the pathogenicity of a novel mutation for cardiomyopathy.
Brodehl A et al.
Journal of Molecular and Cellular Cardiology, 2017
Letter to Editor: Functional study is not the only criterion to predict the pathogenicity of a novel mutation for cardiomyopathy.
Bermúdez-Jiménez FJ et al.
Journal of Molecular and Cellular Cardiology, 2017
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A et al.
Journal of Molecular and Cellular Cardiology, 2016
[Primary immunodeficiency complicated with Bacillus Calmette-Guerin infection: identification and clinical phenotype of a case of novel interleukin-12Rbeta1 gene mutation].
Xie N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
[PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome].
Yi SD et al.
Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2003