Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is caused either by the contraction of the D4Z4 macrosatellite repeat at the distal end of chromosome 4q to a size of 1 to 10 repeat units (FSHD1) or by mutations in D4Z4 chromatin modifiers such as Structural Maintenance o...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Clin Genet
Asıl Yazarlar: Greco, Anna, Goossens, Remko, van Engelen, Baziel, van der Maarel, Silvère M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Blackwell Publishing Ltd 2020
Konular:
Invited Reviews
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7318180/
https://ncbi.nlm.nih.gov/pubmed/32086799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13726
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