A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

doi:10.1007/s00415-016-8123-2

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Article

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

Journal of neurology - 1 Jun 2016

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

Abstract excerpt

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 different features. The inter-rater reproducibility of the CCEF was assessed between two examiners using kappa...

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Identifiers

PMID: 27126453
DOI: 10.1007/s00415-016-8123-2
PMCID: PMC4893383

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