Tracking Down Mutations That Can Stop the Heart

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Science  03 Jul 1998:
Vol. 281, Issue 5373, pp. 32-34
DOI: 10.1126/science.281.5373.32

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It has been known for quite a while that genetics plays a role in conditions ranging from congenital heart malformations to fatal disturbances in heart rhythms, but none of the genes at fault had been identified until 8 years ago, when researchers found the first mutation, in myosin, a key protein in heart muscle. Since then, discoveries of heart-handicapping mutations, including one reported on page 108, have been pouring out of numerous labs at an ever-increasing rate, yielding more than 100 mutations in more than a dozen genes.