Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

IMPORTANCE: Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, sugg...

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Detalles Bibliográficos
Autores principales: Ruggiero, Lucia, Mele, Fabiano, Manganelli, Fiore, Bruzzese, Dario, Ricci, Giulia, Vercelli, Liliana, Govi, Monica, Vallarola, Antonio, Tripodi, Silvia, Villa, Luisa, Di Muzio, Antonio, Scarlato, Marina, Bucci, Elisabetta, Antonini, Giovanni, Maggi, Lorenzo, Rodolico, Carmelo, Tomelleri, Giuliano, Filosto, Massimiliano, Previtali, Stefano, Angelini, Corrado, Berardinelli, Angela, Pegoraro, Elena, Moggio, Maurizio, Mongini, Tiziana, Siciliano, Gabriele, Santoro, Lucio, Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195625/
https://www.ncbi.nlm.nih.gov/pubmed/32356886
http://dx.doi.org/10.1001/jamanetworkopen.2020.4040

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