Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

Human genetics - 1 Oct 1996

Vicart P, Dupret J M, Hazan J, Li Z, Gyapay G, Krishnamoorthy R, Weissenbach J, Fardeau M, Paulin D

Abstract excerpt

Desmin is a muscle-specific intermediate filament that is encoded by a gene assigned to human chromosome 2q35. Desmin-related myopathies are inherited disorders characterized by an intrasarcoplasmic accumulation of desmin. Recently, the knockout of the desmin gene was shown to generate a myopathic syndrome in transgenic mice, suggesting that functional abnormality of desmin may generate similar clinical symptoms...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Primers

Share to Genetic Linkage

Share to Genotype

Share to Molecular Sequence Data

Source

Identifiers

PMID: 8792816
DOI: 10.1007/s004390050233

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.PMID 8792816Read ↗

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.Semantic proximity Read ↗

A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.Semantic proximity Read ↗

A dysfunctional desmin mutation in a patient with severe generalized myopathy.Semantic proximity Read ↗

Structural and functional analysis of a new desmin variant causing desmin-related myopathy.Semantic proximity Read ↗

Desminopathies in muscle disease.Semantic proximity Read ↗

Primary desminopathies.Semantic proximity Read ↗

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.Semantic proximity Read ↗

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Semantic proximity Read ↗

[Desmin filaments and their disorganization associated with myofibrillar myopathies].Semantic proximity Read ↗

Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease ModelingSemantic proximity Read ↗

A Missense Mutation in the Desmin Rod Domain Is Associated with Autosomal Dominant Distal Myopathy, and Exerts a Dominant Negative Effect on Filament FormationSemantic proximity Read ↗

A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.