Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.
Paulo José LorenzoniRenata Dal-Prá DucciRaquel Cristina ArndtNyvia Milicio Coblinski HrysayOtto Jesus Hernández FustesAna TopfHanns LochmüllerLineu Cesar WerneckCláudia Suemi Kamoi KayRosana Hermínia ScolaPublished in: Arquivos de neuro-psiquiatria (2022)
This study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevalence of misdiagnosed CMS to be 4.5% in 'double' SNMG patients of our center. Based on our findings, genetic screening could be helpful in the diagnostic workup of patients with 'double' SNMG in whom differential diagnosis is recommended.