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Muscular Dystrophy Genetics

Reports on muscular dystrophy genetics findings from University of Nottingham, Medical Research Council Human Genetics Unit provide new insights

Published in Hospital Law Weekly, September 6th, 2007

A report, "Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy," is newly published data in The American Journal of Human Genetics. According to recent research from Edinburgh, the United Kingdom, "Facioscapulohumeral muscular dystrophy (FSHD) is caused by deletions within the polymorphic DNA tandem array D4Z4. Each D4Z4 repeat unit has an open reading frame (ORF), termed "DUX4," containing two homeobox sequences."

"Because there has been no evidence of a transcript from the array, these deletions are thought to cause FSHD by a position effect on other genes. Here, we identify D4Z4...

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