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Progressive proximal weakness with contractures and respiratory failure: an unusual presentation of Bethlem myopathy

Neonatal Hypotonia with an Incomplete Genotype–Phenotype Correlation: A Diagnostic Challenge Suggestive of Ullrich Congenital Muscular Dystrophy

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures.

contains half-life of COL6 in the mouse kidney

AXOLOTL: an accurate method for detecting aberrant gene expression in rare diseases using coexpression constraints

also includes COL6 patients; preprint

Collagen VI–Related Myopathies: An Educational Overview of Molecular Pathogenesis, Variability of Clinical Presentations Spectrum, Diagnostic Approaches and Management Strategies

A zebrafish model of Bethlem myopathy reveals CaV1.1 as the missing link between collagen type VI deficiency and muscle dysfunction.

including one BM case

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy

Generation and Characterization of Col6a1 knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related Dystrophies

Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies

Collagen VI microfibril structure reveals mechanism for molecular assembly and clustering of inherited pathogenic mutations

A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence

includes Bethlem

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

Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies

Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient

has also a few patients with COL6A1

Nanomechanics of cell-derived matrices as a functional read-out in Collagen VI-related Congenital Muscular Dystrophies

Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene

stem cell line on the mutation COL6A1 c.930 + 189C > T in intron 11

Collablots: Quantification of collagen VI levels and its structural disorganisation in cell cultures from patients with collagen VI-related dystrophies

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report

About three families with six patients in Iran

3 COL6 patients reported in Mexico

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD

The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction

book chapter from Biochemistry of Collagens, Laminins and Elastin

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India

case report, new mutation

A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1 - Almost Overlooked

case report, new mutation

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts

Identifying Hub Genes and Metabolic Pathways in Collagen VI-Related Dystrophies: A Roadmap to Therapeutic Intervention

Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice

Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1−/− mouse model of collagen VI‐related myopathies

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

The UCMD-Causing COL6A1 (c.930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains

Pregnancy in a woman with extreme short stature and low body weight secondary to a collagen VI-related muscular dystrophy

Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence

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

Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility

Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study

Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2

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

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course

Data augmentation study for rare diseases assessment with Deep Learning: Confocal Imaging analysis of Congenital Muscular Dystrophy

https://repositorio.upct.es/bitstream/handle/10317/13673/das.pdf?sequence=1&isAllowed=y