Massachusetts Institute of Technology

University of Wales College of Medicine

Helen G Harley

David E Housman

Keith J Johnson

J David Brook

Duncan J Shaw

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.

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Rhiwbina, United Kingdom

Helen G Harley