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Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity

Lookup NU author(s): Professor Volker StraubORCiD, Dr Ana TopfORCiD


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© 2020 Elsevier B.V. Recently the scientific community has started to view Bethlem myopathy 1 and Ullrich congenital muscular dystrophy as two extremes of a collagen VI-related myopathy spectrum rather than two separate entities, as both are caused by mutations in one of the collagen VI genes. Here we report three individuals in two families who are homozygous for a COL6A3 mutation (c.7447A> G; p.Lys2483Glu), and compare their clinical features with seven previously published cases. Individuals carrying homozygous or compound heterozygous c.7447A> G, (p.Lys2483Glu) mutation exhibit mild phenotype without loss of ambulation, similar to the cases described previously as Collagen VI-related limb-girdle syndrome. The phenotype could arise due to an aberrant assembly of Von Willebrand factor A domains. Based on these data, we propose that c.7447A> G, (p.Lys2483Glu) is a common pathogenic mutation.

Publication metadata

Author(s): Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panades-de Oliveira L, Dominguez-Gonzalez C, Inashkina I, Kidere D, Chrestian N, Lace B

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2020

Volume: 30

Issue: 6

Pages: 483-491

Print publication date: 01/06/2020

Online publication date: 18/04/2020

Acceptance date: 30/03/2020

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2020.03.010


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