Table 1.

The repeat expansion diseases

1011tbl1

(OMIM) Online Mendelian Inheritance in Man database of human genes and genetic disorders (http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim); (DM1) myotonic dystrophy type 1; (DM2) myotonic dystrophy type 2; (DRPLA) dentatorubral-pallidoluysian atrophy; (EPM1) progressive myoclonus epilepsy type I; (FXS) Fragile X syndrome; (MR) mental retardation; (FRDA) Friedreich ataxia; (HD) Huntington disease; (HDL-2) Huntington disease-like 2; (NCT) noncoding transcript; (SBMA) spinobulbar muscular atrophy; (SCA) spinocerebellar ataxia.

aThe strand shown corresponds to the top strand of the affected gene where it is known. The sequence of both strands is given where this is not known.