Article
A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
Frontiers in bioscience (Elite edition) - 1 Jan 2010
Carsana Antonella, Frisso Giulia, Intrieri Mariano, Tremolaterra Maria Roberta, Savarese Giovanni, Scapagnini Giovanni, Esposito Gabriella, Santoro Lucio, Salvatore Francesco
Abstract excerpt
Duchenne (DMD) and Becker muscular dystrophies (BMD) are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene. In most cohorts, DMD/BMD are due to deletions (60-80%) and duplications (6-10%) involving one or more exons. The remaining cases are caused by different type of point mutations. We analyzed 179 unrelated male patients, 296 women belonging to 137 DMD/BMD families, and 93...
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