Associated Papers
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39252922 (PubMed )
Supplement: media-1.docx
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.
Cheng L et al.
International Journal of Genomics, 2020
A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
Schirmer I et al.
Molecular Genetics & Genomic Medicine, 2018
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
29253866 (PubMed )
Supplement: pone.0189489.s006.docx
Select a paper to view details