Benign Autosomal Dominant Myopathy Latest Advances

Find the Latest Research About Benign Autosomal Dominant Myopathy

Last Updated: 06/30/2026

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Found 125 publications

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

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

Journal: Practical neurology
Published: April 23, 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

Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.

Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.

Journal: Reumatologia clinica
Published: September 18, 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

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.

Journal: Annals of Indian Academy of Neurology
Published: February 14, 2025

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.

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.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 04, 2025

Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.

Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.

Journal: Genes
Published: October 14, 2024

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

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

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: October 02, 2024

Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.

Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 02, 2024

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Journal: Journal of molecular neuroscience : MN
Published: June 30, 2024

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

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

Journal: Neurology
Published: May 16, 2024

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

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

Journal: Human mutation
Published: March 13, 2024
Showing 1-12 of 125

Last Updated: 06/30/2026