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

@inproceedings{Bovolenta2009IdentificationOA,
  title={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},
  author={Matteo Bovolenta and Marcella Neri and Elena Martoni and Anna Urciuolo and Patrizia Sabatelli and Marina Fabris and Paolo Grumati and Eugenio Mercuri and Enrico Bertini and Luciano Merlini and Paolo Bonaldo and Alessandra Ferlini and Francesca Gualandi},
  booktitle={BMC Medical Genetics},
  year={2009}
}
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. We have designed a custom oligonucleotide CGH array in order to investigate the presence of CNVs… CONTINUE READING