Collagen VI-Related Myopathy Latest Advances

Find the Latest Research About Collagen VI-Related Myopathy

Last Updated: 04/28/2026

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Found 461 publications

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

Journal: International journal of molecular sciences
Published: February 14, 2026

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

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

Journal: Cureus
Published: November 22, 2025

The Absence of Collagen VI Reduces Systolic Function but Paradoxically Increases Ca2+ Release in the Rat Heart.

The Absence of Collagen VI Reduces Systolic Function but Paradoxically Increases Ca2+ Release in the Rat Heart.

Journal: Acta physiologica (Oxford, England)
Published: November 17, 2025

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Journal: International journal of molecular sciences
Published: November 12, 2025

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Journal: International journal of molecular sciences
Published: November 12, 2025

iPS cell-based therapy for muscular disorders

iPS cell-based therapy for muscular disorders

Journal: Rinsho shinkeigaku = Clinical neurology
Published: September 28, 2025

Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.

Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.

Journal: Reumatologia clinica
Published: September 18, 2025

Comorbid autosomal dominant LDLR- and collagen VI-related disorders.

Comorbid autosomal dominant LDLR- and collagen VI-related disorders.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: July 20, 2025

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

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

Journal: Biomolecules
Published: July 14, 2025

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

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

Journal: Cureus
Published: April 13, 2025

Autosomal recessive Bethlem myopathy: a 30-year journey.

Autosomal recessive Bethlem myopathy: a 30-year journey.

Journal: Journal of neurology
Published: April 09, 2025

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

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

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: March 24, 2025
Showing 1-12 of 461

Last Updated: 04/28/2026