Zi-Meng He

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...