A possible new phenotype associated with variants in COL6A2 gene


Collagen VI (COL6) related myopathies include two major forms: milder Bethlem myopathy (BM) and severe Ullrich congenital muscular dystrophy (UCMD). Typically the onset in both forms is congenital and proximal muscles are more involved than distal muscles. COL6 is a ubiquitous extra-cellular matrix fiber that is composed of A1, A2 and A3 subunits. Mutations in COL6 subunits destabilize the extra-cellular matrix, which manifests as distal laxity and contractures. Autosomal dominant and recessive mutations causing both BM and UCMD have been reported in all COL6 subunits.


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