Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

Facioscapulohumeral muscular dystrophy (FSHD), the most prevalent myopathy afflicting both children and adults, is predominantly associated with contractions in the 4q35-localized macrosatellite D4Z4 repeat array. Recent studies have proposed that FSHD pathology is caused by the misexpression of the...

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Autors principals: Jones, Takako Iida, Chen, Jennifer C. J., Rahimov, Fedik, Homma, Sachiko, Arashiro, Patricia, Beermann, Mary Lou, King, Oliver D., Miller, Jeffrey B., Kunkel, Louis M., Emerson, Charles P., Wagner, Kathryn R., Jones, Peter L.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2012
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3459465/
https://ncbi.nlm.nih.gov/pubmed/22798623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds284
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