Article
Trinucleotide repeat disorders.
Annual review of neuroscience - 1 Jan 2007
Orr Harry T, Zoghbi Huda Y
Abstract excerpt
The discovery that expansion of unstable repeats can cause a variety of neurological disorders has changed the landscape of disease-oriented research for several forms of mental retardation, Huntington disease, inherited ataxias, and muscular dystrophy. The dynamic nature of these mutations provided an explanation for the variable phenotype expressivity within a family. Beyond diagnosis and genetic counseling,...
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