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Article

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

21 Mar 2019

Abstract excerpt

INTRODUCTION: The correct phenotypic classification of patients with facioscapulohumeral muscular dystrophy (FSHD) is crucial for directing genetic diagnosis and for the definition of outcome measures in clinical trials. METHODS: Our objective was to ascertain the utility of the Comprehensive Clinical Evaluation Form (CCEF), the clinical classification proposed by the Italian Clinical Network for FSHD, in an...

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PMID: 30895627
DOI: 10.1002/mus.26474

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