Genotype to phenotype correlations in myotonic dystrophy type 1 patients

Myotonic dystrophy is an inherited genetic disease which affects the muscles, brain, heart and eyes. The symptoms are exceptionally variable, ranging from a severe form present at birth, to a mild late onset form. Unusually, the severity of the disease increases and age at onset decreases with successive generations. The aim of this project is to determine the genetic factors that mediate the variability of symptoms and age of onset in a cohort of Scottish myotonic dystrophy patients. Understanding the variability will be important for identifying new therapeutic targets and for increasing the efficiency of clinical trials.