Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

Abstract

Molecular and mophological comparative study in a set of patients deficient for cytochrome C oxidase activity based on SCO2 gene mutation

Keywords

• SCO2 mutations
• COX deficiency
• mitochondrial abnormalities
• cardiomyopathy
• myopathy
• neuropathy
• retinopathy