A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Autor: Hubert Journel, Sylvie Ragot-Mandry, Delphine Héron, Brigitte Chabrol, S. Peudenier, Jean-Marie Cuisset, Guillaume Bassez, Pascal Sabouraud, Catherine Sarret, Claude Cances, Mélanie Fradin, Agnès Jacquin-Piques, Julie Perrier-Boeswillald, Isabelle Desguerre, Michèle Mayer, Susana Quijano-Roy, Arnaud Isapof, Vincent Laugel, Marie De Antonio, Frédérique Audic, Nathalie Bach, Emmanuelle Lagrue, C. Espil, Rémi Bellance, Catherine Vanhulle, Armelle Magot, Hervé Testard, Julien Durigneux, Yann Péréon, Cécile Laroche-Raynaud, Romain K. Gherardi, Christine Barnerias, Céline Dogan, Véronique Manel, François Rivier, Dalil Hamroun, Ulrike Walther-Louvier, Christian Richelme

Publikováno v: Neurology
Neurology, American Academy of Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩
Neurology, 2019, 92 (8), pp.e852-e865. ⟨10.1212/WNL.0000000000006948⟩

ObjectiveTo genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management.MethodsAmong the 2,697 patients with genetically confirmed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90f5e2b2022b063379e100eade2c6dc6
https://hal.archives-ouvertes.fr/hal-02097112