Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase ( COQ2 )

• Published in: European journal of paediatric neurology Vol. 17; no. 6; pp. 625 - 630
• Main Authors: Scalais, Emmanuel, Chafai, Ronit, Van Coster, Rudy, Bindl, Lutz, Nuttin, Christian, Panagiotaraki, Chryssa, Seneca, Sara, Lissens, Willy, Ribes, Antonia, Geers, Caroline, Smet, Joel, De Meirleir, Linda
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.11.2013
• Subjects: Alkyl and Aryl Transferases - genetics; Ataxia - complications; Ataxia - genetics; Ataxia - pathology; Cardiomyopathy; Cardiomyopathy, Hypertrophic - complications; Cardiomyopathy, Hypertrophic - genetics; Cardiomyopathy, Hypertrophic - pathology; CoQ2 (encoding para-hydroxybenzoate-polyprenyl transferase); Diffusion Magnetic Resonance Imaging; Early myoclonic epilepsy; Electroencephalography; Epilepsies, Myoclonic - complications; Epilepsies, Myoclonic - genetics; Epilepsies, Myoclonic - pathology; Genetic Testing; Humans; Hypertrophic cardiomyopathy; Infant; Kidney - pathology; Kidney - ultrastructure; Magnetic Resonance Spectroscopy; Male; Microscopy, Electron, Transmission; Mitochondrial Diseases - complications; Mitochondrial Diseases - genetics; Mitochondrial Diseases - pathology; Muscle Weakness - complications; Muscle Weakness - genetics; Muscle Weakness - pathology; Muscle, Skeletal - pathology; Mutation - genetics; Nephrotic syndrome; Nephrotic Syndrome - etiology; Nephrotic Syndrome - genetics; Nephrotic Syndrome - pathology; Neurology; Pediatrics; Primary CoQ10 deficiency; Ubiquinone - deficiency; Ubiquinone - genetics; Hypertrophic cardiomyopathy; Primary CoQ10 deficiency; Early myoclonic epilepsy; Nephrotic syndrome; CoQ2 (encoding para-hydroxybenzoate-polyprenyl transferase)

Abstract Background Primary coenzyme Q10 (CoQ10) deficiencies are heterogeneous autosomal recessive disorders. CoQ2 mutations have been identified only rarely in patients. All affected individuals presented with nephrotic syndrome in the first year of life. Methods An infant is studied with myocloni...