The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls

@article{Bettencourt2010TheT,
  title={The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls},
  author={Conceiç{\~a}o Bettencourt and Cristina Maria B. Santos and Rafael Montiel and Teresa Taylor Kay and Jo{\~a}o 3 Vasconcelos and Patr{\'i}cia Maciel and Manuela Lima},
  journal={European Journal of Human Genetics},
  year={2010},
  volume={18},
  pages={621-623}
}
Machado–Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)n motif within exon 10 of the ATXN3 gene, located at 14q32.1. The variance in onset of MJD is only partially correlated (∼50–80%) with the extension of the CAG tract in genomic DNA (gDNA). The main aim of this work was to determine whether there are discrepancies in the… CONTINUE READING