Expansion of trinucleotide repeat sequences is the mutational mechanism in at least 16 neurological disorders, including fragile X type A syndrome, myotonic dystrophy, spinobulbar muscular atrophy, Huntington disease, and several others. The discovery of trinucleotide repeat expansions provides a biological explanation for anticipation,the increase in disease severity and decrease in age of onset from one generation to the next, observed in all of these disorders. This chapter provides an overview of trinucleotide repeat disorders and discusses some of the findings in pathogenesis studies. © 2006 Humana Press Inc.
CITATION STYLE
Zoghbi, H. Y. (2006). Trinucleotide repeat disorders. In Principles of Molecular Medicine (pp. 1114–1122). Humana Press. https://doi.org/10.1007/978-1-59259-963-9_116
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