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mitochondrial complex III deficiency
Pathology:
- disorder of the mitochondrial respiratory chain
Genetics:
- associated with defects in UQCRB, UQCRQ, BCS1L
Clinical manifestations:
- highly variable phenotype depending on which tissues are affected
- clinical features include
- mitochondrial encephalopathy
- psychomotor retardation
- ataxia
- failure to thrive
- liver dysfunction
- renal tubulopathy
- muscle weakness
- exercise intolerance
General
enzyme deficiency
Database Correlations
OMIM correlations
References
OMIM :accession 124000