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
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Onore ME et al.
International Journal of Molecular Sciences, 2022
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.
Santhoshkumar R et al.
Journal of Molecular Neuroscience : Mn, 2021
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
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
Henderson M et al.
Acta Neuropathologica, 2013
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