Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

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 associate...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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, Silvére M., Yokomori, Kyoko
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4489691/
https://ncbi.nlm.nih.gov/pubmed/24838473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22593
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