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Two Genes That Combine to Cause Rare Syndrome Identified, Massachusetts General Hospital and Duke University Study


5/9/2013 7:32:09 AM

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Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia -- a lack of muscle coordination -- and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families.

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