1. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant. (10th June 2015) Authors: Charif, Majida; Titah, Salah Mohamed Cherif; Roubertie, Agathe; Desquiret‐Dumas, Valérie; Gueguen, Naig; Meunier, Isabelle; Leid, Jean; Massal, Frédéric; Zanlonghi, Xavier; Mercier, Jacques; Raynaud de Mauverger, Eric; Procaccio, Vincent; de Camaret, Bénédicte Mousson; Lenaers, Guy; Hamel, Christ... Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant. (10th June 2015) Authors: Charif, Majida; Titah, Salah Mohamed Cherif; Roubertie, Agathe; Desquiret‐Dumas, Valérie; Gueguen, Naig; Meunier, Isabelle; Leid, Jean; Massal, Frédéric; Zanlonghi, Xavier; Mercier, Jacques; Raynaud de Mauverger, Eric; Procaccio, Vincent; de Camaret, Bénédicte Mousson; Lenaers, Guy; Hamel, Christ... Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗