Review
Open access
Sep 2026
Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China
Pediatric CMS shows marked genetic heterogeneity and frequent VUS‐related uncertainty and Integrating phenotype, electrophysiology, and genomics supports diagnosis and mechanism‐guided therapy.
Li-Ya Cui, Kai-Yue Ma, Xiao-Na Fu et al.
· CNS Neuroscience & Therapeut... · 0 citations