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

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

1 Jun 1998

Abstract excerpt

We have identified a new pathogenic mechanism for an inherited muscular dystrophy in which functional haploinsufficiency of the extracellular matrix protein collagen VI causes Bethlem myopathy. The heterozygous COL6A1 mutation results in a single base deletion from the mRNA and a premature stop codon. The mutant mRNA is unstable, subject to nonsense-mediated mRNA decay, and is almost completely absent both from...

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion Molecules Research
Share to Cellular Mechanics and Interactions
Share to Muscle Physiology and Disorders

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

Source

Identifiers

PMID: 9580662
DOI: 10.1093/hmg/7.6.981

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiencyPMID 9580662Read ↗

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.Semantic proximity Read ↗

[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].Semantic proximity Read ↗

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.Semantic proximity Read ↗

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.Semantic proximity Read ↗

ColVI myopathies: where do we stand, where do we go?Semantic proximity Read ↗

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.Semantic proximity Read ↗

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

[Collagen VI-related muscle disorders].Semantic proximity Read ↗

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.Semantic proximity Read ↗

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.Semantic proximity Read ↗

Autosomal recessive myosclerosis myopathy is a collagen VI disorder.Semantic proximity Read ↗

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