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Author

Chang-Hong Ding

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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. · 0 citations
Jul 2026

Clinical and genetic spectrum of RHOBTB2‐related disorders: A study integrating Chinese and international cohorts for genotype–phenotype correlations and clinical subtyping

This study was undertaken to characterize the clinical and genetic spectrum of RHOBTB2‐related disorders (RHOBTB2‐RDs) in a Chinese population, explore genotype–phenotype correlations, and develop a refined clinical framework to improve diagnosis and management.

Ming Liu, Xiao-Juan Tian, Yu-Pin Ma et al. · 0 citations

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