ReviewNature reviews. Neurology2011
The collagen VI-related myopathies: muscle meets its matrix.
Review in Nature reviews. Neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 187 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
187 citing papers in PubMed, 4 syntheses or guidelines pooled it, 316 citations in OpenAlex.
- Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.Journal of the American Heart Association · 2020Pooled it
- Genetic and Clinical Advances of Congenital Muscular Dystrophy.Chinese medical journal · 2017Pooled it
- Guideline
- Diagnostic approach to the congenital muscular dystrophies.Neuromuscular disorders : NMD · 2014Guideline
- Comparison between Collagen and Lidocaine Intramuscular Injections in Terms of Their Efficiency in Decreasing Myofascial Pain within Masseter Muscles: A Randomized, Single-Blind Controlled Trial.Pain research & management · 2018Trial
- A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.The Journal of clinical investigation · 2015Trial
- Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report.Clinical case reports · 2026Article
- Integrating and Orchestrating Multiple Components of Skeletal Muscle Injury and Regeneration.American journal of physiology. Cell physiology · 2026Article
- Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures.JCEM case reports · 2026Article
- Anti-Melanoma Differentiation-Associated Gene 5 Antibody-Positive Juvenile Dermatomyositis Presenting With Predominant Joint Contractures.Revista de neurologia · 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
- A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells.Stem cell research & therapy · 2026Article
- Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.Human mutation · 2026Article
- Dry synovitis, RF-negative: a rare entity distinct from juvenile idiopathic arthritis.Rheumatology advances in practice · 2026Article
- Training Together, Diagnosing Better: Federated Learning for Collagen VI-Related Dystrophies.ArXiv · 2025Article
- Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.International journal of molecular sciences · 2025Review
- Landscape Analysis ofBiomolecules · 2025Article
- Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.Animal models and experimental medicine · 2025Article
- Balanced Translocations Involving theInternational journal of molecular sciences · 2025Article
- Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.Brain : a journal of neurology · 2025Article
127 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
1 author at 1 institution in 1 country.
Funding
Abstract
The collagen VI-related myopathy known as Ullrich congenital muscular dystrophy is an early-onset disease that combines substantial muscle weakness with striking joint laxity and progressive contractures. Patients might learn to walk in early childhood; however, this ability is subsequently lost, concomitant with the development of frequent nocturnal respiratory failure. Patients with intermediate phenotypes of collagen VI-related myopathy display a lesser degree of weakness and a longer period of ambulation than do individuals with Ullrich congenital muscular dystrophy, and the spectrum of disease finally encompasses mild Bethlem myopathy, in which ambulation persists into adulthood. Dominant and recessive autosomal mutations in the three major collagen VI genes-COL6A1, COL6A2, and COL6A3-can underlie this entire clinical spectrum, and result in deficient or dysfunctional microfibrillar collagen VI in the extracellular matrix of muscle and other connective tissues, such as skin and tendons. The potential effects on muscle include progressive dystrophic changes, fibrosis and evidence for increased apoptosis, which potentially open avenues for pharmacological intervention. Optimized respiratory management, including noninvasive nocturnal ventilation together with careful orthopedic management, are the current mainstays of treatment and have already led to a considerable improvement in life expectancy for children with Ullrich congenital muscular dystrophy.
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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.