Clinical Chemistry
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Clinical Chemistry 41: 69-72, 1995;
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Clinical Chemistry, Vol 41, 69-72, Copyright © 1995 by American Association for Clinical Chemistry

A molecular protocol for diagnosing myotonic dystrophy

M Guida, RS Marger, AC Papp, PJ Snyder, MS Sedra, JT Kissel, JR Mendell and TW Prior
Department of Pathology, Ohio State University, Columbus 43210.

Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas DM patients have CTG expansions of 50 to several thousand repeats. The age of onset of the disorder and the severity of the phenotype is roughly correlated with the size of the CTG expansion. We developed a molecular protocol for the diagnosis of DM based on an initial polymerase chain reaction screen to detect normal-sized alleles and small expansions, followed by an improved Southern protocol to detect larger expansions.


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Copyright © 1995 by the American Association for Clinical Chemistry.