CONGENITAL MUSCULAR DYSTROPHIES

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Collagen VI-related dystrophies (COL6-RD) are a group of frequently severe, congenital-onset muscular dystrophies for which there currently is no causative treatment. We have recently identified a new, and unexpectedly common, de novo deep-intronic mutation (c.930+189C>T) in the collagen 6 alpha 1 (COL6A1) gene, associated with severe COL6-RD. The intronic mutation creates a new donor splice site and in conjunction with a dormant splice acceptor drives the insertion in about 50% of transcripts of an in-frame pseudo-exon that exerts a dominant-negative effect on the collagen VI extracellular matrix assembly.

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