Associated Papers
Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.
Aldharee H et al.
Genes, 2024
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L et al.
International Journal of Molecular Sciences, 2023
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
Rufibach L et al.
Journal of Personalized Medicine, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D et al.
Brain Pathology (zurich, Switzerland), 2020
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Deconinck N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
Deconinck N et al.
Neuromuscular Disorders : Nmd, 2010
The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells.
Lamandé SR et al.
The Journal of Biological Chemistry, 2006
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