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)

✍ Scribed by 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

• Book ID: 122087647
• Publisher: Elsevier Science
• Year: 2013
• Tongue: English
• Weight: 826 KB
• Volume: 17
• Category: Article
• ISSN: 1090-3798
• DOI: 10.1016/j.ejpn.2013.05.013