Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD

In most cases facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat in the 4q subtelomere. This contraction is associated with local chromatin decondensation and derepression of the DUX4 retrogene. Its complex genetic and epigenetic cause and high clinical variabi...

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Autori principali: Krom, Yvonne D., Dumonceaux, Julie, Mamchaoui, Kamel, den Hamer, Bianca, Mariot, Virginie, Negroni, Elisa, Geng, Linda N., Martin, Nicolas, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., Mouly, Vincent, Butler-Browne, Gillian S., van der Maarel, Silvère M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Investigative Pathology 2012
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Regular Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3463638/
https://ncbi.nlm.nih.gov/pubmed/22871573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajpath.2012.07.007
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