A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference32 articles.
1. Progression despite replacement of a myopathic form of coenzyme Q10 defect;Aure;Neurology,2004
2. A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency;Boitier;J Neurol Sci,1998
3. Brea-Calvo G, Rodriguez-Hernandez A, Fernandez-Ayala DJM, Navas P, Sanchez-Alcazar JA. Chemotherapy induces an increase in coenzyme Q10 levels in cancer cell lines. Free Radic Biol Med (in press)
4. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene;Date;Nat Genet,2001
5. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency;Di Giovanni;Neurology,2001
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