Article
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
PloS one - 1 Jan 2016
Dogan Celine, De Antonio Marie, Hamroun Dalil, Varet Hugo, Fabbro Marianne, Rougier Felix, Amarof Khadija, Arne Bes Marie-Christine, Bedat-Millet Anne-Laure, Behin Anthony, Bellance Remi, Bouhour Françoise, Boutte Celia, Boyer François, Campana-Salort Emmanuelle, Chapon Françoise, Cintas Pascal, Desnuelle Claude, Deschamps Romain, Drouin-Garraud Valerie, Ferrer Xavier, Gervais-Bernard Helene, Ghorab Karima, Laforet Pascal, Magot Armelle, Magy Laurent, Menard Dominique, Minot Marie-Christine, Nadaj-Pakleza Aleksandra, Pellieux Sybille, Pereon Yann, Preudhomme Marguerite, Pouget Jean, Sacconi Sabrina, Sole Guilhem, Stojkovich Tanya, Tiffreau Vincent, Urtizberea Andoni, Vial Christophe, Zagnoli Fabien, Caranhac Gilbert, Bourlier Claude, Riviere Gerard, Geille Alain, Gherardi Romain K, Eymard Bruno, Puymirat Jack, Katsahian Sandrine, Bassez Guillaume
Abstract excerpt
BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically...
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