A typical phenotypes due to ndufv1 mutations

HIGHLIGHTS

  • who: Pediatr Urol Case Rep and colleagues from the Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan Graduate School of Medicine, Juntendo University have published the research: A typical phenotypes due to NDUFV1 mutations, in the Journal: (JOURNAL)

SUMMARY

    Mitochondrial Oxidative Phosphorylation (OxPhos) defects are a group of heterogeneous diseases of metabolism. Mutations in Mitochondrial-DNA encoded (mt-DNA) genes and nuclear-DNA encoded genes cause OxPhos dysfunction. LS and in characteristic abnormalities in the cerebral white matter, is a common neurodegenerative disease caused by and selective . . .

     

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