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).
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S. Seneca | L. de Meirleir | A. Ribes | W. Lissens | C. Nuttin | C. Geers | R. Van Coster | J. Smet | E. Scalais | L. Bindl | R. Chafai | C. Panagiotaraki