A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Based on the 7-year experience of the Italian Clinical Network for FSHD, we revised the FSHD clinical form to describe, in a harmonized manner, the phenotypic spectrum observed in FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of di...

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Detalles Bibliográficos
Autores principales: Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Sera, Francesco, Nikolic, Ana, Govi, Monica, Mele, Fabiano, Daolio, Jessica, Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Bucci, Elisabetta, Cao, Michelangelo, D’Amico, Maria Chiara, D’Angelo, Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Maggi, Lorenzo, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Pegoraro, Elena, Rodolico, Carmelo, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Villa, Luisa, Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893383/
https://www.ncbi.nlm.nih.gov/pubmed/27126453
http://dx.doi.org/10.1007/s00415-016-8123-2

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