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

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 impl...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3061890/
https://ncbi.nlm.nih.gov/pubmed/21396098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-37
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