A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Emmanuelle LagrueCéline DoganMarie De AntonioFrédérique AudicNathalie BachChristine BarneriasRémi BellanceClaude CancesBrigitte ChabrolJean-Marie CuissetIsabelle DesguerreJulien DurigneuxCaroline EspilMélanie FradinDelphine HéronArnaud IsapofAgnès Jacquin-PiquesHubert JournelCécile Laroche-RaynaudVincent LaugelArmelle MagotVéronique ManelMichèle MayerYann PéréonJulie Perrier-BoeswillaldSylviane PeudenierSusana Quijano-RoySylvie Ragot-MandryChristian RichelmeFrançois RivierPascal SabouraudCatherine SarretHervé TestardCatherine VanhulleUlrike Walther-LouvierRomain GherardiDalil HamrounGuillaume BassezPublished in: Neurology (2019)
The pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning.