Mutations of Gemin5 Associated with Coenzyme Q10 Deficiency: Long-Term Follow-Up After Treatment

Medicine, Cardiovascular System, Life Sciences, Genetics,
Gemin5 mutations   Coenzyme Q10 deficiency   Neurological improvement   MRI abnormalities   Whole exome sequencing   Biosynthesis decrease   Oral CoQ10 treatment  

Gemin5 Gene Mutation-Related Coenzyme Q10 Deficiency: Long-term Follow-up After Treatment Background Gemin5 is a highly conserved multifunctional protein that mainly functions in assembling small RNA-protein complexes in the cytoplasm and participates in the splicing process of pre-mRNA to generate mature mRNA. Previous studies have reported a seri...