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

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Human genetics - 1 Sept 2005

Lucarini Laura, Giusti Betti, Zhang Rui-Zhu, Pan Te-Cheng, Jimenez-Mallebrera Cecilia, Mercuri Eugenio, Muntoni Francesco, Pepe Guglielmina, Chu Mon-Li

Abstract excerpt

Ullrich congenital muscular dystrophy (UCMD) is a severe disorder caused, in most cases, by a deficiency in collagen VI microfibrils. Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have been identified in eight of the nine UCMD patients reported thus far. A heterozygous COL6A1 gene deletion, resulting in a mutant protein that exerts a dominant negative effect, has recently been...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type VI
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunohistochemistry

Share to Introns

Share to Muscular Dystrophies

Share to Point Mutation

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA Splicing

Source

Identifiers

PMID: 16075202
DOI: 10.1007/s00439-005-1318-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.PMID 16075202Read ↗

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

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.Semantic proximity Read ↗

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.Semantic proximity Read ↗

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

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

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophySemantic proximity Read ↗

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

Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy.Semantic proximity Read ↗

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.Semantic proximity Read ↗

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

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