Abstract:
:Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder often considered to be the third most common muscular dystrophy. Deletions reducing the copy number of the D4Z4 repeat in the distal end of the 4q arm are the main genetic cause of the disease. The recently highlighted research has identified a transcriptional activatory long non-coding RNA involved in the disease that acts through the recruitment of ASH1L, a protein belonging to the Trithorax family.
journal_name
Cell Resjournal_title
Cell researchauthors
Vizoso M,Esteller Mdoi
10.1038/cr.2012.93subject
Has Abstractpub_date
2012-10-01 00:00:00pages
1413-5issue
10eissn
1001-0602issn
1748-7838pii
cr201293journal_volume
22pub_type
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