Article
Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model.
Nature communications - 15 Sept 2017
Bosnakovski Darko, Chan Sunny S K, Recht Olivia O, Hartweck Lynn M, Gustafson Collin J, Athman Laura L, Lowe Dawn A, Kyba Michael
Abstract excerpt
Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is very low, and protein has not been detected directly in patient biopsies. Efforts to model DUX4 myopathy in mice have foundered either in being too severe, or in lacking muscle phenotypes. Here we show that the endogenous...
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