Massachusetts Institute of Technology

University of Wales College of Medicine

J David Brook

David E Housman

Keith J Johnson

Duncan J Shaw

Helen G Harley

A nucleotide sequence, specifically a CTG triplet repeat, is shown to be expanded in individuals affected with myotonic dystrophy and can be identified in a sample obtained from an individual. Individuals in whom the CTG triplet repeat is present in normal copy number are likely to be minimally affected and individuals in whom the CTG triplet repeat occurs in abnormally high copy number are likely to be more severely affected.

DNA sequence encoding the myotonic dystrophy gene and uses thereof

A method by which a nucleotide sequence, specifically a CTG triplet repeat, shown to be expanded in individuals affected with myotonic dystrophy can be identified in a sample obtained from an individual. The present method can be used to identify individuals in whom the CTG triplet repeat is present in normal copy number and individuals in whom the CTG triplet repeat occurs in abnormally high copy number, as well as to further identify individuals likely to be minimally affected and individuals likely to be more severely affected.

Growing community of inventors

West Bridgford, United Kingdom

J David Brook