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Collagen VI-Related Myopathy
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Collagen VI-Related Myopathy Overview

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Learn About Collagen VI-Related Myopathy

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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.

Who are the top Collagen VI-Related Myopathy Local Doctors?
Elite in Collagen VI-Related Myopathy
Paolo Bonaldo
Elite in Collagen VI-Related Myopathy
Paolo Bonaldo
Padova, IT 

Paolo Bonaldo practices practicing medicine in Padova, Italy. Mr. Bonaldo is rated as an Elite expert by MediFind in the treatment of Collagen VI-Related Myopathy. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Collagen VI-Related Myopathy, Benign Autosomal Dominant Myopathy, Hyaline Fibromatosis Syndrome, and Vici Syndrome.

Elite in Collagen VI-Related Myopathy
Francesco Muntoni
Elite in Collagen VI-Related Myopathy
Francesco Muntoni
Great Ormond Street Hospital Biomedical Research Centre, 
London, ENG, GB 

Francesco Muntoni practices practicing medicine in London, United Kingdom. Mr. Muntoni is rated as an Elite expert by MediFind in the treatment of Collagen VI-Related Myopathy. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), and Gastrostomy.

 
 
 
 
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Elite in Collagen VI-Related Myopathy
Patrizia Sabatelli
Elite in Collagen VI-Related Myopathy
Patrizia Sabatelli
Bologna, IT 

Patrizia Sabatelli practices practicing medicine in Bologna, Italy. Ms. Sabatelli is rated as an Elite expert by MediFind in the treatment of Collagen VI-Related Myopathy. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Collagen VI-Related Myopathy, Benign Autosomal Dominant Myopathy, Emery-Dreifuss Muscular Dystrophy, and X-Linked Dominant Scapuloperoneal Myopathy.

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What are the Latest Advances for Collagen VI-Related Myopathy?
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
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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
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What are the latest Collagen VI-Related Myopathy Clinical Trials?
Clinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital
Clinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital
Enrollment Status: Recruiting
Publish Date: August 28, 2024

Summary: Muscular Myopathies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing \[1\]. Duchenne Muscular Dy...

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Congenital Muscle Disease Patient and Proxy Reported Outcome Study
Congenital Muscle Disease Patient and Proxy Reported Outcome Study
Enrollment Status: Recruiting
Publish Date: August 09, 2021

Summary: The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and bec...

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