Trinucleotide repeats: mechanisms and pathophysiology

CJ Cummings, HY Zoghbi - Annual review of genomics and …, 2000 - annualreviews.org
Within the closing decade of the twentieth century, 14 neurological disorders were shown to
result from the expansion of unstable trinucleotide repeats, establishing this once unique
mutational mechanism as the basis of an expanding class of diseases. Trinucleotide repeat
diseases can be categorized into two subclasses based on the location of the trinucleotide
repeats: diseases involving noncoding repeats (untranslated sequences) and diseases
involving repeats within coding sequences (exonic). The large body of knowledge …