ArticleSkeletal muscle2011
ColVI myopathies: where do we stand, where do we go?
Article in Skeletal muscle, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis 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
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- Pooled it
- Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures.JCEM case 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
- Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.Disease models & mechanisms · 2026Article
- Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.Journal of the Royal Society, Interface · 2025Article
- Vascular Basement Membrane Fragmentation in Keloids and the Expression of Key Basement Membrane Component Genes.Plastic and reconstructive surgery. Global open · 2024Article
- Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.Biomolecules · 2024Article
- Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.Molecular therapy. Nucleic acids · 2024Article
- Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing.Molecular therapy. Nucleic acids · 2024Article
- Identification of novel variations in three cases with rare inherited neuromuscular disorder.Experimental and therapeutic medicine · 2024Article
- Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.bioRxiv : the preprint server for biology · 2024Article
- A humanized knock-inbioRxiv : the preprint server for biology · 2024Article
- Neuromuscular disease genetics in under-represented populations: increasing data diversity.Brain : a journal of neurology · 2023Article
- Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.International journal of molecular sciences · 2023Article
- Current Strategies of Muscular Dystrophy Therapeutics: An Overview.Methods in molecular biology (Clifton, N.J.) · 2023Review
- The UCMD-CausingHuman mutation · 2023Article
- A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition.Human mutation · 2022Article
- A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- Therapeutic Effects of Platelet-Derived Extracellular Vesicles in a Bioengineered Tendon Disease Model.International journal of molecular sciences · 2022Article
- 3D in vitro Models of Pathological Skeletal Muscle: Which Cells and Scaffolds to Elect?Frontiers in bioengineering and biotechnology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Collagen VI myopathies, caused by mutations in the genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) at each end of the spectrum, and less well-defined intermediate phenotypes in between. ColVI myopathies also share common features with other disorders associated with prominent muscle contractures, making differential diagnosis difficult. This group of disorders, under-recognized for a long time, has aroused much interest over the past decade, with important advances made in understanding its molecular pathogenesis. Indeed, numerous mutations have now been reported in the COL6A1, COL6A2 and COL6A3 genes, a large proportion of which are de novo and exert dominant-negative effects. Genotype-phenotype correlations have also started to emerge, which reflect the various pathogenic mechanisms at play in these disorders: dominant de novo exon splicing that enables the synthesis and secretion of mutant tetramers and homozygous nonsense mutations that lead to premature termination of translation and complete loss of function are associated with early-onset, severe phenotypes. In this review, we present the current state of diagnosis and research in the field of ColVI myopathies. The past decade has provided significant advances, with the identification of altered cellular functions in animal models of ColVI myopathies and in patient samples. In particular, mitochondrial dysfunction and a defect in the autophagic clearance system of skeletal muscle have recently been reported, thereby opening potential therapeutic avenues.
Identifiers
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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.