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Author

Li-Ya Cui

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Open access Sep 2026

Mitochondrial defects in the cAMP-PKA-DRP1 pathway in a Crppa deletion model of dystroglycanopathy

ABSTRACT Dystroglycanopathies (DGPs) are autosomal recessive muscular dystrophies caused by abnormal α-dystroglycan glycosylation. CRPPA is one causative gene, with deletion of exons 6-9 identified as a founder variant in Chinese patients. Our previous study revealed mitochondrial abnormalities in patient muscle biopsi...

Ji-Hang Luo, Yi-Dan Liu, D. Song et al. · 0 citations
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

ABSTRACT Aims To characterize the clinical, electrophysiological, and genetic spectrum of pediatric CMS and evaluate genotype‐informed outcomes using an integrated phenotype–electrophysiology–genomics approach. Methods We retrospectively reviewed 36 pediatric CMS patients evaluated at a single center between 2015 and 2...

Li-Ya Cui, Kai-Yue Ma, Xiao-Na Fu et al. · 0 citations

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