Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özlem ÖzsoyTayfun ÇinletiÇağatay GünayGamze Sarikaya UzanÖzlem Giray BozkayaAhmet Okay ÇağlayanA Semra HizUluç YaşPublished in: Acta neurologica Belgica (2023)
This study highlights that clinical recognition of congenital myasthenic syndrome and knowledge of related genes will aid the rapid diagnosis and treatment of these rare neuromuscular disorders. Findings in the juvenile myasthenia gravis group demonstrate the impact of pubertal development and the need for timely and appropriate active therapy, including thymectomy, to improve prognosis.