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pubmed-article:17151338pubmed:abstractTextFacioscapulohumeral muscular dystrophy (FSHD) is caused by deletions within a tandem array of D4Z4 repeats on chromosome 4q35. In addition to muscle degeneration, most patients with FSHD develop abnormalities of the retinal vasculature. Previous work has suggested that muscle degeneration in FSHD results from increased expression of genes proximal to the deletion, including FRG1.lld:pubmed
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pubmed-article:17151338pubmed:articleTitleExpression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.lld:pubmed
pubmed-article:17151338pubmed:affiliationDepartment of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642-8673, USA.lld:pubmed
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