Associated Papers
Desmin-related myopathy manifested by various types of arrhythmias: a case report and literature review.
Geng L et al.
The Journal of International Medical Research, 2024
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
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN et al.
Frontiers in Cardiovascular Medicine, 2023
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV et al.
Human Mutation, 2019
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