Gapmer antisense oligonucleotides selectively suppress the mutant allele of COL6A3 gene in dominant Ullrich congenital muscular dystrophy

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Collagen VI-related congenital muscular dystrophies (COL6-CMD) are the second most common diagnosis in congenital muscular dystrophies, according to a recent retrospective review performed by our centre on genetic studies in childhood neuromuscular diseases in the UK population. The collagen VI-related myopathies, ranging from severe Ullrich congenital muscular dystrophy (UCMD) to mild Bethlem myopathy (BM) and intermediate clinical phenotypes, are caused by mutations in one of the genes that encode the three major α-chains of collagen type VI, COL6A1, COL6A2 and COL6A3.

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