Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1

Abstract

Genetic Medicine is highly variable and classified into three subtypes according to severity: mild; classical; and congenital. 1) The abnormal expansion of a trinucleotide CTG repeat in the 3'UTR of the DMPK1 gene is the underlying molecular cause of DM1 2) and diagnosis is based on detection of these abnormally expanded repeats. There is a clear association between CTG repeat size and age at onset and clinical severity; 1, 3-5) it is important, therefore, to identify the accurate