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Last Updated: 01/07/2026
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Found 123 publications
Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.
Journal: Reumatologia clinica
Published: September 18, 2025
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.
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.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 04, 2025
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
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Journal: Human mutation
Published: March 13, 2024
Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report.
Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report.
Journal: BMC anesthesiology
Published: January 29, 2024
Last Updated: 01/07/2026