MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor normally repressed in skeletal muscle. As targeted therapies are now possible in FSHD, a better understanding of the relationship be...

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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Wang, Leo H, Friedman, Seth D, Shaw, Dennis, Snider, Lauren, Wong, Chao-Jen, Budech, Chris B, Poliachik, Sandra L, Gove, Nancy E, Lewis, Leann M, Campbell, Amy E, Lemmers, Richard J F L, Maarel, Silvère M, Tapscott, Stephen J, Tawil, Rabi N
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2019
Fag:
General Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6337697/
https://ncbi.nlm.nih.gov/pubmed/30312408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy364
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