Beginning in 1991, our understanding of the molecular basesof nine important neurologic diseases has burgeoned. A new classof molecular disease has been identified, defined by the abnormal,unstable expansion of DNA-triplet repeats in the mutant, causalgene for each of these disorders. In this issue of the Journal,Dürr et al.1 report on a large series of patients withthe triplet DNA expansion that causes Friedreich's ataxia. Thisreport should be understood in the context of the moleculargenetics of this group of neurologic diseases.
The first triplet disease described was the fragile X syndrome,which has been . . . [Full Text of this Article]
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Genetic Abnormalities in Friedreich's Ataxia
Dutka D. P., Nunez D. J.R., Filla A., De Michele G., Cocozza S., Madhani H. D., Dürr A., Brice A., Koenig M., Rosenberg R. N.
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N Engl J Med 1997;
336:1021-1023, Apr 3, 1997.
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