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

• Main Authors: Brioschi Simona (Author), Gualandi Francesca (Author), Scotton Chiara (Author), Armaroli Annarita (Author), Bovolenta Matteo (Author), Falzarano Maria S (Author), Sabatelli Patrizia (Author), Selvatici Rita (Author), D'Amico Adele (Author), Pane Marika (Author), Ricci Giulia (Author), Siciliano Gabriele (Author), Tedeschi Silvana (Author), Pini Antonella (Author), Vercelli Liliana (Author), De Grandis Domenico (Author), Mercuri Eugenio (Author), Bertini Enrico (Author), Merlini Luciano (Author), Mongini Tiziana (Author), Ferlini Alessandra (Author)
• Format: Book
• Published: BMC, 2012-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...