Article
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
BMC medical genetics - 19 Mar 2010
Bovolenta Matteo, Neri Marcella, Martoni Elena, Urciuolo Anna, Sabatelli Patrizia, Fabris Marina, Grumati Paolo, Mercuri Eugenio, Bertini Enrico, Merlini Luciano, Bonaldo Paolo, Ferlini Alessandra, Gualandi Francesca
Abstract excerpt
BACKGROUND: Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-65% in Bethlem myopathy (BM) patients as PCR-based techniques tend to miss gross genomic rearrangements as well as copy number variations (CNVs) in both the coding sequence and intronic regions....
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