The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Rocio N Villar-QuilesMaja von der HagenCorinne MétayVictoria GonzalezSandra DonkervoortEnrico BertiniClaudia CastiglioniDenys ChaigneJaume ColomerMaria Luz CuadradoMarianne de VisserIsabelle DesguerreBruno EymardNathalie GoemansAngela KaindlEmmanuelle LagrueJürg LütschgEdoardo MalfattiMichèle MayerLuciano MerliniDavid OrlikowskiUlrike ReunerMustafa A SalihBeate Schlotter-WeigelMechthild StoetterVolker StraubHaluk TopalogluJ Andoni UrtizbereaAnneke van der KooiEkkehard WilichowskiNorma B RomeroMichel FardeauCarsten G BonnemannBrigitte EstournetPascale RichardSusana Quijano-RoyUlrike ScharaAna FerreiroPublished in: Neurology (2020)
Our results inform clinical practice, improving diagnosis and management, and represent a major breakthrough for clinical trial readiness in this not so rare disease.