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

Bethlem myopathy 1 and the more severe Ullrich congenital muscular dystrophy 1 are both associated with mutations in one of the three collagen VI genes —COL6A1, COL6A2 and COL6A3. Since the same genes are involved, these two diseases are now often viewed as the two extremes of a spectrum of collagen VI-related myopathies. Lately, however, there has been also data on involvement of the COL12A1 gene, with mutations in it being associated with Bethl em myopathy 2 [1–3].

Source: Neuromuscular Disorders - April 17, 2020 Category: Neurology Authors: Janis Stavusis, Ieva Micule, Nathan T. Wright, Volker Straub, Ana Topf, Lu ísa Panadés-de Oliveira, Cristina Domínguez-González, Inna Inashkina, Dita Kidere, Nicolas Chrestian, Baiba Lace Source Type: research