ArticleJournal of medical genetics2000
Desmin splice variants causing cardiac and skeletal myopathy.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 79 citations in OpenAlex.
- Desminopathy: A Rare Cause of Cardiac Arrhythmia.JACC. Case reports · 2026Article
- Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.International journal of molecular sciences · 2023Article
- Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.Reviews in cardiovascular medicine · 2022Review
- Genetic Insights into Primary Restrictive Cardiomyopathy.Journal of clinical medicine · 2022Review
- Phenotypic variability within the desminopathies: A case series of three patients.Frontiers in neurology · 2022Article
- The Desmin MutationBiomedicines · 2021Article
- A different background of arrhythmia in siblings with a positive family history of sudden death at young age.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2020Article
- Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.Journal of cardiovascular development and disease · 2020Review
- A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.Chinese medical journal · 2019Article
- Molecular insights into cardiomyopathies associated with desmin (DES) mutations.Biophysical reviews · 2018Review
- The role of heat shock proteins and co-chaperones in heart failure.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Review
- Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis.CASE (Philadelphia, Pa.) · 2017Article
- Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Circulation. Cardiovascular genetics · 2014Article
- Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.BMC medical genetics · 2013Article
- Identification and cytoprotective function of a novel nestin isoform, Nes-S, in dorsal root ganglia neurons.The Journal of biological chemistry · 2013Article
- Desminopathies: pathology and mechanisms.Acta neuropathologica · 2013Review
- Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.PloS one · 2012Article
- Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.Neuromuscular disorders : NMD · 2010Article
- Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.The Journal of clinical investigation · 2009Review
- Intermediate filament diseases: desminopathy.Advances in experimental medicine and biology · 2008Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA splicing. Sequencing of cDNA and genomic DNA identified a heterozygous de novo A to G change at the +3 position of the splice donor site of intron 3 (IVS3+3A-->G) in a patient with sporadic skeletal and cardiac myopathy. A G to A transition at the highly conserved -1 nucleotide position of intron 2 affecting the splice acceptor site (IVS2-1G-->A) was found in an unrelated patient with a similar phenotype. Expression of genomic DNA fragments carrying the IVS3+3A-->G and IVS2-1G-->A mutations confirmed that these mutations cause exon 3 deletion. Aberrant splicing leads to an in frame deletion of 32 complete codons and is predicted to result in mutant desmin lacking 32 amino acids from the 1B segment of the alpha helical rod. Functional analysis of the mutant desmin in SW13 (vim-) cells showed aggregation of abnormal coarse clumps of desmin positive material dispersed throughout the cytoplasm. This is the first report on the pathogenic potentials of splice site mutations in the desmin gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.