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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:JAMA Netw Open
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Medical Association 2020
Θέματα:
Original Investigation
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7195625/
https://ncbi.nlm.nih.gov/pubmed/32356886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2020.4040
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