Article
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
European journal of human genetics : EJHG - 1 Feb 2015
Abdulhag Ulla Najwa, Soiferman Devorah, Schueler-Furman Ora, Miller Chaya, Shaag Avraham, Elpeleg Orly, Edvardson Simon, Saada Ann
Abstract excerpt
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclear-encoded mutations in assembly factors while rarely by mutations in structural subunits. We hereby report a case of isolated COX deficiency manifesting with encephalomyopathy, hydrocephalus and hypertropic cardiomyopathy due to a missense p.R20C mutation in the COX6B1 gene, which encodes an...
Topics
- Cardiomyopathies
- Electron Transport Complex IV
- Fibroblasts
- Humans
- Hydrocephalus
- Infant, Newborn
- Male
- Mitochondria, Muscle
- Mitochondrial Encephalomyopathies
- Muscle, Skeletal