Article
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.
Circulation. Cardiovascular genetics - 1 Jun 2017
Chong-Nguyen Caroline, Wahbi Karim, Algalarrondo Vincent, Bécane Henri Marc, Radvanyi-Hoffman Hélène, Arnaud Pauline, Furling Denis, Lazarus Arnaud, Bassez Guillaume, Béhin Anthony, Fayssoil Abdallah, Laforêt Pascal, Stojkovic Tanya, Eymard Bruno, Duboc Denis
Abstract excerpt
BACKGROUND: In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. METHODS AND RESULTS: We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the Myotonic Dystrophy Type...
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