Southern Analysis after Long-range PCR: Clinical Appli- cation in Korean Patients with Myotonic Dystrophy 1
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چکیده
is highly variable and classified into three subtypes according to severity: mild; classical; and congenital. The abnormal expansion of a trinucleotide CTG repeat in the 3’UTR of the DMPK1 gene is the underlying molecular cause of DM1 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; 3-5) it is important, therefore, to identify the accurate Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
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تاریخ انتشار 2013