Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

S. Mahadevan, Mani; Tsilfidis, Catherine; A. Sabourin, Luc; Shutler, Gary; T. Amemiya, Chris; Jansen, Gert; Neville, Catherine; Narang, Monica; Barceló, Juana; O'Hoy, Kim; Leblond, S.; Earle-MacDonald, Jane; J. de Jong, Pieter; Wieringa, Bé; G. Korneluk, Robert

doi:10.1126/science.1546325

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Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Published in Science • Mar 6, 1992

Authors:

Mani S. Mahadevan

Catherine Tsilfidis

Luc A. Sabourin

Abstract

Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults, with a global incidence of 1 in 8000 individuals. DM is an autosomal dominant, multisystemic disorder characterized primarily by myotonia and progressive muscle weakness. Genomic and complementary DNA probes that m...

Subject

Myotonic dystrophy

Myotonia

Genetics

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