Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a rel...

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Autores principales: Nikolic, Ana, Jones, Takako I, Govi, Monica, Mele, Fabiano, Maranda, Louise, Sera, Francesco, Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Portaro, Simona, Villa, Luisa, Fiorillo, Chiara, Maggi, Lorenzo, Santoro, Lucio, Antonini, Giovanni, Filosto, Massimiliano, Moggio, Maurizio, Angelini, Corrado, Pegoraro, Elena, Berardinelli, Angela, Maioli, Maria Antonetta, D’Angelo, Grazia, Di Muzio, Antonino, Siciliano, Gabriele, Tomelleri, Giuliano, D’Esposito, Maurizio, Della Ragione, Floriana, Brancaccio, Arianna, Piras, Rachele, Rodolico, Carmelo, Mongini, Tiziana, Magdinier, Frederique, Salsi, Valentina, Jones, Peter L., Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178248/
https://www.ncbi.nlm.nih.gov/pubmed/32290091
http://dx.doi.org/10.3390/ijms21072635

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