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

BACKGROUND: 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 heterogeneous group characterized by variable degrees of muscle wea...

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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3459813/
https://ncbi.nlm.nih.gov/pubmed/22894145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-73
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