Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

BACKGROUND: Both forms of facioscapulohumeral muscular dystrophy (FSHD) are associated with aberrant epigenetic regulation of the chromosome 4q35 D4Z4 macrosatellite. Chromatin changes due to large deletions of heterochromatin (FSHD1) or mutations in chromatin regulatory proteins (FSHD2) lead to rel...

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Detalhes bibliográficos
Publicado no:Clin Epigenetics
Main Authors: Jones, Takako I, King, Oliver D, Himeda, Charis L, Homma, Sachiko, Chen, Jennifer C J, Beermann, Mary Lou, Yan, Chi, Emerson, Charles P, Miller, Jeffrey B, Wagner, Kathryn R, Jones, Peter L
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4405830/
https://ncbi.nlm.nih.gov/pubmed/25904990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-015-0072-6
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