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Zhi-Mei Liu

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Review Open access Sep 2026

Clinical spectrum and genotype–phenotype correlations of MT-CYB-associated mitochondrial disease: from the m.15045G > A variant to the broader disease landscape

To characterize the clinical and molecular features associated with the MT-CYB m.15045G > A variant and investigate the clinical spectrum and genotype–phenotype relationships of MT-CYB -associated mitochondrial disease. We performed comprehensive clinical, metabolic, histopathological, genetic, and...

Zi-Meng He, Tong-Yue Li, Chao-Long Xu et al. · Frontiers in Neuroscience · 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. · CNS Neuroscience & Therapeut... · 0 citations

Zhi-Mei Liu

Clinical spectrum and genotype–phenotype correlations of MT-CYB-associated mitochondrial disease: from the m.15045G > A variant to the broader disease landscape

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

Clinical spectrum and genotype–phenotype correlations of MT-CYB-associated mitochondrial disease: from the m.15045G > A variant to the broader disease landscape