Article Text
Book Review
Nucleotide and protein expansions and human disease
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Edited by J Gecz, G R Sutherland. Basel: Karger publishers, Reprint of Cytogenetic and Genome Research Vol 100 Nos 1–4, 2003, £67.50, pp 298. ISBN 3-8055-7621-8 (hardback)
Since 1991, when the CAG repeat expansion causing spinobulbar muscular dystrophy and the CCG repeat expansion in fragile X syndrome were discovered, there has been great progress in understanding the biology of triplet repeat instability and the diseases associated with these types of mutation. The number of diseases and classes of mutations has grown such that there are currently nine CAG repeat diseases where the repeats are translated into polyglutamine tracts, a recessive triplet mutation (Friedreich’s ataxia), more than a handful of different diseases …