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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2011
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Research Article
Online toegang: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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