Article
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).
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2013
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
Abstract excerpt
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 myoclonic seizures and hypertrophic cardiomyopathy in the first months of life and developed a nephrotic syndrome in a later stage....
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