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Chao-Long Xu

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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 Aug 2026

Clinical phenotype spectrum and prognostic analysis of DNM1L-related disorders: a single-center cohort study of 18 patients

“hemiconvulsion-hemiplegia-epilepsy syndrome” is identified as a distinct feature and potential prognostic indicator for middle domain variants in DNM1L variants, which are predominantly missense, with the middle domain as a hotspot.

Han Xu, Chao-Long Xu, Ying Zou et al. · Frontiers in Neurology · 0 citations

Chao-Long Xu

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

Clinical phenotype spectrum and prognostic analysis of DNM1L-related disorders: a single-center cohort study of 18 patients

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