Search
cytochrome C oxidase deficiency; mitochondrial complex IV deficiency; COX deficiency
Genetics:
- associated with defects in COX6B1, COX10, COX15 genes
- associated defects in SCO1
- associated with defects in MT-CO1, MT-CO2, MT-CO3
Clinical manifestations:
- clinically heterogeneous disorder
- ranging from isolated myopathy to severe multisystem disease
- features include
- hypertrophic cardiomyopathy
- hepatomegaly & liver dysfunction
- hypotonia
- muscle weakness
- excercise intolerance
- developmental delay
- delayed motor development
- mental retardation
- a subset of patients manifest Leigh syndrome
- onset from infancy to adulthood
Related
cytochrome c oxidase (complex IV)
General
enzyme deficiency
Database Correlations
OMIM 220110
References
OMIM :accession 220110