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

• Hoofdauteurs: Merlini Luciano (Auteur), Bertini Enrico (Auteur), Mercuri Eugenio (Auteur), Grumati Paolo (Auteur), Fabris Marina (Auteur), Sabatelli Patrizia (Auteur), Urciuolo Anna (Auteur), Martoni Elena (Auteur), Neri Marcella (Auteur), Bovolenta Matteo (Auteur), Bonaldo Paolo (Auteur), Ferlini Alessandra (Auteur), Gualandi Francesca (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2010-03-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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 (...