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Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

Authors :
Osborne, R J.
Welle, S
Venance, S L.
Thornton, C A.
Tawil, R
Source :
Neurology (Ovid); February 2007, Vol. 68 Issue: 8 p569-577, 9p
Publication Year :
2007

Abstract

Facioscapulohumeral 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.

Details

Language :
English
ISSN :
00283878 and 1526632X
Volume :
68
Issue :
8
Database :
Supplemental Index
Journal :
Neurology (Ovid)
Publication Type :
Periodical
Accession number :
ejs49025540
Full Text :
https://doi.org/10.1212/01.wnl.0000251269.31442.d9