The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families with an isolated myopathic phenotype of CoQ10 deficiency. The clinical, histological and biochemical presen...

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Publicat a:Brain
Autors principals: Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita
Format: Artigo
Idioma:Inglês
Publicat: 2007
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4345103/
https://ncbi.nlm.nih.gov/pubmed/17412732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awm054
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