Article
Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.
Human mutation - 1 Aug 2014
Zeng Weihua, Chen Yen-Yun, Newkirk Daniel A, Wu Beibei, Balog Judit, Kong Xiangduo, Ball Alexander R, Zanotti Simona, Tawil Rabi, Hashimoto Naohiro, Mortazavi Ali, van der Maarel Silvère M, Yokomori Kyoko
Abstract excerpt
Facioscapulohumeral dystrophy (FSHD) is one of the most prevalent muscular dystrophies. The majority of FSHD cases are linked to a decreased copy number of D4Z4 macrosatellite repeats on chromosome 4q (FSHD1). Less than 5% of FSHD cases have no repeat contraction (FSHD2), most of which are associated with mutations of SMCHD1. FSHD is associated with the transcriptional derepression of DUX4 encoded within the D4Z4...
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