A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70032
Abstract: Congenital muscular dystrophies (CMDs) are diverse early‐onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI‐related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in… read more here.
Keywords: malian family; splice site; congenital muscular; consanguineous malian ... See more keywords
Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy.
Sign Up to like & getrecommendations! Published in 2020 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-0771-8_16
Abstract: Allele-specific gene silencing by antisense oligonucleotide (ASO) or small interference RNA (siRNA) has been used as a therapeutic approach for conditions caused by dominant gain-of-function mutations. We here present an antisense approach using gapmer ASO… read more here.
Keywords: ullrich congenital; congenital muscular; muscular dystrophy; col6a genes ... See more keywords