Article
Focal and other unusual presentations of facioscapulohumeral muscular dystrophy.
Muscle & nerve - 1 Sept 2012
Hassan Anhar, Jones Lyell K, Milone Margherita, Kumar Neeraj
Abstract excerpt
INTRODUCTION: Facioscapulohumeral dystrophy (FSHD) presents classically with facial and shoulder-girdle weakness. We report focal atypical presentations of FSHD. Our aim was to identify focal/unusual phenotypes in genetically confirmed FSHD cases. METHODS: We undertook a retrospective review of an academic center database of the period from 1996 to 2011. Of 139 FSHD cases, 7 had atypical genetically confirmed...
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