ArticleInternational journal of molecular sciences2023
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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.
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Who cites it
15 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Role of hypertrophic adipocytes, collagen VI, and CD38 in adipose tissue fibrosis in obesity.Scientific reports · 2026Article
- A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells.Stem cell research & therapy · 2026Article
- Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.International journal of molecular sciences · 2025Review
- 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
- Autosomal recessive Bethlem myopathy: a 30-year journey.Journal of neurology · 2025Article
- Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Article
- Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.Neurogenetics · 2024Article
- Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures.International journal of molecular sciences · 2024Article
- The recurrent deep intronic pseudoexon-inducing variantmedRxiv : the preprint server for health sciences · 2024Article
- Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.Cells · 2024Article
- A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report.Journal of personalized medicine · 2023Article
- Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies.Biomolecules · 2023Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Pathogenetic mechanism recognition and proof-of-concept clinical trials were performed in our patients affected by collagen VI-related myopathies. This study, which included 69 patients, aimed to identify innovative clinical data to better design future trials. Among the patients, 33 had Bethlem myopathy (BM), 24 had Ullrich congenital muscular dystrophy (UCMD), 7 had an intermediate phenotype (INTM), and five had myosclerosis myopathy (MM). We obtained data on muscle strength, the degree of contracture, immunofluorescence, and genetics. In our BM group, only one third had a knee extension strength greater than 50% of the predicted value, while only one in ten showed similar retention of elbow flexion. These findings should be considered when recruiting BM patients for future trials. All the MM patients had axial and limb contractures that limited both the flexion and extension ranges of motion, and a limitation in mouth opening. The immunofluorescence analysis of collagen VI in 55 biopsies from 37 patients confirmed the correlation between collagen VI defects and the severity of the clinical phenotype. However, biopsies from the same patient or from patients with the same mutation taken at different times showed a progressive increase in protein expression with age. The new finding of the time-dependent modulation of collagen VI expression should be considered in genetic correction trials.
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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.