Article
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
BMC medical genetics - 11 Mar 2011
Magri Francesca, Del Bo Roberto, D'Angelo Maria G, Govoni Alessandra, Ghezzi Serena, Gandossini Sandra, Sciacco Monica, Ciscato Patrizia, Bordoni Andreina, Tedeschi Silvana, Fortunato Francesco, Lucchini Valeria, Cereda Matteo, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P
Abstract excerpt
BACKGROUND: 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 approximately 75% of mutations in DMD and 85% in BMD. The implementation of techniques allowing complete gene sequencing has focused attention on small point mutations and other...
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