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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Bibliografiske detaljer
Udgivet i:JAMA Netw Open
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: American Medical Association 2020
Fag:
Original Investigation
Online adgang: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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