Article
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Brain : a journal of neurology - 1 Aug 2007
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
Abstract excerpt
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 presentation of our patients was very homogenous. All patients presented with exercise intolerance, fatigue, proximal...
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