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Related terms: Hereditary Motor and Sensory Neuropathy, HMSN, CMT, Peroneal Muscular Atrophy

Gene Mutations Identified for Charcot-Marie-Tooth Syndrome

Posted 11 Mar 2010 by Drugs.com

WEDNESDAY, March 10 – By analyzing the genome of a colleague who has Charcot-Marie-Tooth syndrome, U.S. scientists have identified gene mutations associated with the neurological disorder, which affects the function of nerves in the limbs, hands and feet. The study, published online March 10 in the New England Journal of Medicine, involved sequencing the complete genome of Dr. James Lupski, vice chairman of molecular and human genetics at Baylor College of Medicine in Houston. The researchers found that Lupski has different mutations in the copies of the gene SH3TC2 that he inherited from his parents. Neither parent has the disease but four of their children inherited both the gene mutations and the disease. "This is the first time we have tried to identify a disease gene this way," Lupski said in a Baylor news release. "It demonstrates that the technology is robust enough that we can ... Read more

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