ReviewJournal of medical genetics2005
Collagen VI related muscle disorders.
Review in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 163 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
163 citing papers in PubMed, 2 syntheses or guidelines pooled it, 391 citations in OpenAlex.
- Diagnostic approach to the congenital muscular dystrophies.Neuromuscular disorders : NMD · 2014Guideline
- Consensus statement on standard of care for congenital muscular dystrophies.Journal of child neurology · 2010Guideline
- Serum endotrophin identifies optimal responders to PPARγ agonists in type 2 diabetes.Diabetologia · 2017Trial
- Trial
- Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.Oxidative medicine and cellular longevity · 2011Trial
- Macrophage regulation of extracellular matrix remodeling in aging skeletal muscle.Ageing research reviews · 2026Review
- Oxidative Stress and Antioxidant Defense Mechanisms inAntioxidants (Basel, Switzerland) · 2026Article
- Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.International journal of molecular sciences · 2026Article
- Detection of differentially expressed genes in bantam chickens providing insights into chicken dwarfism.BMC genomic data · 2025Article
- Collagen proteins, thrombospondin 1 and lumican are differentially expressed across breast cancer subtypes by functional proteomics from core needle biopsy samples of Taiwanese breast cancer.Biochemistry and biophysics reports · 2025Article
- Landscape Analysis ofBiomolecules · 2025Article
- Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.Brain : a journal of neurology · 2025Article
- The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.PLoS genetics · 2025Article
- COL6A1 Inhibits the Malignant Development of Bladder Cancer by Regulating FBN1.Cell biochemistry and biophysics · 2025Article
- Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.Journal of the Royal Society, Interface · 2025Article
- The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.bioRxiv : the preprint server for biology · 2024Article
- Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families.Iranian biomedical journal · 2024Article
- Article
- Type VI Collagen Deficiency Causes Enhanced Periodontal Tissue Destruction.Journal of dental research · 2024Article
- Optimized allele-specific silencing of the dominant-negativeMolecular therapy. Nucleic acids · 2024Article
103 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders.
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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.