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Article

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

17 Sept 2012

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. The pathophysiology of FSHD is unknown and, as a result, there is currently no effective treatment available for this disease. To better understand the pathophysiology of FSHD and develop mRNA-based biomarkers of affected muscles, we...

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PMID: 22988124
DOI: 10.1073/pnas.1209508109

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