Abstract
A new mutational basis for human disease was discovered in the beginning of this decade. The genes responsible for fragile X syndrome, spinobulbar muscular atrophy and later the genes causing myotonic dystrophy and Huntington disease were shown to harbor unstable, expanding trinucleotide repeats. The dynamic nature of these mutations explained intriguing features of clinical symptoms observed in families inheriting these diseases. The increasing disease penetrance and expresivity in subsequent family generations could be correlated with the increasing number of trinucleotide repeats. Now, thirteen human hereditary neurological diseases are known to have their underlying cause in the trinucleotide repeat expansions [1] and their list is likely to grow.
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Krzyzosiak, W.J., Napierala, M., Drozdz, M. (1999). RNA Structure Modules with Trinucleotide Repeat Motifs. In: Barciszewski, J., Clark, B.F.C. (eds) RNA Biochemistry and Biotechnology. NATO Science Series, vol 70. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-4485-8_22
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DOI: https://doi.org/10.1007/978-94-011-4485-8_22
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