Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ 10 deficiency
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference34 articles.
1. Mitochondrial disorders as windows into an ancient organelle;Vafai;Nature,2012
2. The antioxidant role of coenzyme Q;Bentinger;Mitochondrion,2007
3. Human coenzyme Q10 deficiency;Quinzii;Neurochem. Res.,2007
4. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency;Di Giovanni;Neurology,2001
5. Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome;Ogasahara;Neurology,1985
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