Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% of healthy individuals carry this molecular signature and 19% of subjec...

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Detalles Bibliográficos
Autores principales: Ricci, Giulia, Scionti, Isabella, Sera, Francesco, Govi, Monica, D’Amico, Roberto, Frambolli, Ilaria, Mele, Fabiano, Filosto, Massimiliano, Vercelli, Liliana, Ruggiero, Lucia, Berardinelli, Angela, Angelini, Corrado, Antonini, Giovanni, Bucci, Elisabetta, Cao, Michelangelo, Daolio, Jessica, Di Muzio, Antonio, Di Leo, Rita, Galluzzi, Giuliana, Iannaccone, Elisabetta, Maggi, Lorenzo, Maruotti, Valerio, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Nikolic, Ana, Pastorello, Ebe, Ricci, Enzo, Rodolico, Carmelo, Santoro, Lucio, Servida, Maura, Siciliano, Gabriele, Tomelleri, Giuliano, Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808686/
https://www.ncbi.nlm.nih.gov/pubmed/24030947
http://dx.doi.org/10.1093/brain/awt226

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