Author

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

Tissue-specific distribution of MT-CYB variants showed an association with clinical phenotype, while other genetic and functional factors may collectively contribute to phenotypic variability, providing further evidence for the pathogenicity of m.15045G > A.

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

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

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