Molecular genetic and clinical aspects of mitochondrial disorders in childhood.

Abstract excerpt

Mitochondrial OXPHOS disorders are caused by mutations in mitochondrial or nuclear genes, which directly or indirectly affect mitochondrial oxidative phosphorylation (OXPHOS). Primary mtDNA abnormalities in children are due to rearrangements (deletions or duplications) and point mutations or insertions. Mutations in the nuclear-encoded polypeptide subunits of OXPHOS result in complex I and II deficiency, whereas...

Topics

• Child
• DNA, Mitochondrial
• Humans
• Mitochondrial Diseases
• Mutation
• Nuclear Proteins
• Protein Subunits