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American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 808 - 815
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2018, Volume 50, Issue 4, pp. 581 - 590
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 967 - 975
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 07/2018, Volume 119, Issue 7, pp. 6258 - 6265
Journal Article
Brain, ISSN 0006-8950, 10/2011, Volume 134, Issue 10, pp. 2982 - 3010
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2013, Volume 17, Issue 6, pp. 625 - 630
Abstract Background Primary coenzyme Q10 (CoQ10) deficiencies are heterogeneous autosomal recessive disorders. CoQ2 mutations have been identified only rarely... 
Pediatrics | Neurology | Hypertrophic cardiomyopathy | Primary CoQ10 deficiency | Early myoclonic epilepsy | Nephrotic syndrome | CoQ2 (encoding para-hydroxybenzoate-polyprenyl transferase) | NEPHROPATHY | CLINICAL NEUROLOGY | SYNTHASE | MITOCHONDRIAL ENCEPHALOMYOPATHY | COENZYME-Q10 DEFICIENCY | CEREBELLAR-ATAXIA | CoQ2 (encoding parahydroxybenzoate-polyprenyl ferase) | MYOPATHIC FORM | PEDIATRICS | UBIQUINONE DEFICIENCY | Mitochondrial Diseases - pathology | Genetic Testing | Kidney - pathology | Humans | Ubiquinone - deficiency | Muscle Weakness - complications | Infant | Male | Cardiomyopathy, Hypertrophic - complications | Electroencephalography | Epilepsies, Myoclonic - pathology | Nephrotic Syndrome - genetics | Muscle Weakness - genetics | Mitochondrial Diseases - complications | Alkyl and Aryl Transferases - genetics | Muscle Weakness - pathology | Ataxia - genetics | Ataxia - pathology | Epilepsies, Myoclonic - genetics | Mitochondrial Diseases - genetics | Microscopy, Electron, Transmission | Cardiomyopathy, Hypertrophic - genetics | Magnetic Resonance Spectroscopy | Nephrotic Syndrome - pathology | Ubiquinone - genetics | Mutation - genetics | Epilepsies, Myoclonic - complications | Kidney - ultrastructure | Diffusion Magnetic Resonance Imaging | Ataxia - complications | Muscle, Skeletal - pathology | Nephrotic Syndrome - etiology | Cardiomyopathy, Hypertrophic - pathology | Genetic research | Enzymes | Genetic aspects | Epilepsy | Index Medicus | Cardiomyopathy
Journal Article