Open access
Aug 2026
Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome
Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.
D. Muhmann, G. Haliloglu, M. A. Grimalt et al.
· European Journal of Neurolog... · 0 citations