Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy
Sylvie Gerber, Martina G Ding, Xavier Gérard, Klaus Zwicker, Xavier Zanlonghi, Marlène Rio, Valérie Serre, Sylvain Hanein, Arnold Munnich, Agnès Rotig, Lucas Bianchi, Patrizia Amati-Bonneau, Orly Elpeleg, Josseline Kaplan, Ulrich Brandt, Jean-Michel Rozet
Journal of Medical Genetics May 2017, 54 (5) 346-356; DOI: 10.1136/jmedgenet-2016-104212