Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

<p>Abstract</p> <p>Background</p> <p>Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They represent an heterogeneou...

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Main Authors: Brioschi Simona, Gualandi Francesca, Scotton Chiara, Armaroli Annarita, Bovolenta Matteo, Falzarano Maria S, Sabatelli Patrizia, Selvatici Rita, D’Amico Adele, Pane Marika, Ricci Giulia, Siciliano Gabriele, Tedeschi Silvana, Pini Antonella, Vercelli Liliana, De Grandis Domenico, Mercuri Eugenio, Bertini Enrico, Merlini Luciano, Mongini Tiziana, Ferlini Alessandra
Format: Article
Language:English
Published: BMC 2012-08-01
Series:BMC Medical Genetics
Subjects:
Dystrophinopathy
Female carriers
X-inactivation
Transcriptional balancing
Online Access:http://www.biomedcentral.com/1471-2350/13/73

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