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Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency… Click to show full abstract
Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency with only striated muscle–specific symptoms.
Keywords:
cytochrome oxidase;
deficiency;
muscle specific;
cox6a2 variants
Journal Title: Annals of Neurology
Year Published: 2019
Link to full text (if available)
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Journal Title: Annals of Neurology
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!