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Sat 13 Mar, 2010 03:52 am
Context:
One team identified a previously unknown mutation that almost certainly causes a neuromuscular disorder by sequencing the genome of one of its members, James Lupski, who has Charcot-Marie-Tooth syndrome. Mutations in more than two dozen genes have previously been linked to the diseases but Lupski, a medical geneticist at Baylor College of Medicine in Houston, Texas, is negative for all of them.