Article
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
Journal of neurology - 1 Jan 2021
Vercelli Liliana, Mele Fabiano, Ruggiero Lucia, Sera Francesco, Tripodi Silvia, Ricci Giulia, Vallarola Antonio, Villa Luisa, Govi Monica, Maranda Louise, Di Muzio Antonio, Scarlato Marina, Bucci Elisabetta, Maggi Lorenzo, Rodolico Carmelo, Moggio Maurizio, Filosto Massimiliano, Antonini Giovanni, Previtali Stefano, Angelini Corrado, Berardinelli Angela, Pegoraro Elena, Siciliano Gabriele, Tomelleri Giuliano, Santoro Lucio, Mongini Tiziana, Tupler Rossella
Abstract excerpt
BACKGROUND: The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. METHODS: An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline...
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