Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

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,...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297913/
https://ncbi.nlm.nih.gov/pubmed/24781756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.85
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