Posted by George Shaw on Apr 4, 2013
New mouse models which recapitulate several important aspects of FSHD are discussed. A 12.5 D4Z4 repeat mouse which acts more or less as a control, and a 2.5 D4Z4 repeat mouse, which clearly has much higher DUX4 expression in myotube cultures. It seems to confirm that muscles are more susceptible than other cell types. Though the mice are affected and possibly have some muscle weakness, they do not have the muscle phenotype of human FSH patient.
See full article in PLOS Genetics.
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