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
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
Claes L et al.
Neuropediatrics, 2023
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
Silva AMS et al.
Journal of Neuropathology and Experimental Neurology, 2022
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Riley LG et al.
European Journal of Human Genetics : Ejhg, 2019
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