Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

• Main Authors: Corti Stefania (Author), Cereda Matteo (Author), Lucchini Valeria (Author), Fortunato Francesco (Author), Tedeschi Silvana (Author), Bordoni Andreina (Author), Ciscato Patrizia (Author), Sciacco Monica (Author), Gandossini Sandra (Author), Ghezzi Serena (Author), Govoni Alessandra (Author), D'Angelo Maria G (Author), Del Bo Roberto (Author), Magri Francesca (Author), Moggio Maurizio (Author), Bresolin Nereo (Author), Comi Giacomo P (Author)
• Format: Book
• Published: BMC, 2011-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approxi...