Pedigree analysis and the transmission of the pathogenic expanded allele in two families.

<p>Subject numbers (#) correspond to cloned individuals indicated in <b><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003648#pgen.1003648.s005" target="_blank">Table S3</a></b>, where individual cloned sequences can be found. The mean total repeat size as determined by clone sequencing for each allele is shown, along with the age at disease onset. The first family (<b>A</b>) illustrates the transmission of a pure CAG repeat tract across three generations. The second family (<b>B</b>) shows transmission of an interrupted pathogenic allele. The limited number of clones analysed may have introduced some degree of sampling error.