Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
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
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.
Bardakov SN et al.
Journal of Neuromuscular Diseases, 2021
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Deconinck N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
Zamurs LK et al.
The Journal of Biological Chemistry, 2015
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
Tagliavini F et al.
Biochimica Et Biophysica Acta, 2014
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.
Allamand V et al.
Neuromuscular Disorders : Nmd, 2010
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
Merlini L et al.
Neurology, 2008
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