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Last Updated: 03/06/2025

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Found 114 publications

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

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

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

Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene.

Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene.

Journal: Clinical case reports
Published: December 13, 2023

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

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

Journal: Neurology. Genetics
Published: November 21, 2023

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report.

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report.

Journal: Journal of personalized medicine
Published: September 15, 2023

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

Journal: Molecular syndromology
Published: June 29, 2023

Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.

Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.

Journal: Frontiers in genetics
Published: June 18, 2023

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

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

Journal: Molecular biology reports
Published: May 13, 2023

Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy.

Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy.

Journal: Medicine
Published: March 02, 2023

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

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

Journal: Journal of pediatric orthopedics
Published: January 06, 2023
Showing 1-12 of 114

Last Updated: 03/06/2025