Article
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
JAMA network open - 1 May 2020
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
Abstract excerpt
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, suggesting that subgroups of patients exist among carriers of the D4Z4 reduced allele (DRA). Objective: To investigate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.