Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
Francesca Magrinelli(National Hospital for Neurology and Neurosurgery), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Kate Sergeant(Oxford University Hospitals NHS Trust), Vinícius Lopes Braga(Universidade Federal de São Paulo), Uluç Yiş(Dokuz Eylül University), Flávio Moura Rezende Filho(Universidade Federal de São Paulo), Semra Hız(Dokuz Eylül University), Christoph Kernstock(STZ eyetrial), Maha S. Zaki(National Research Centre), Hoda Tomoum(Ain Shams University), Elisa Calì(National Hospital for Neurology and Neurosurgery), Rita Horváth(Wellcome Centre for Mitochondrial Research), Orlando Graziani Póvoas Barsottini(Hospital São Paulo), Juliana Maria Ferraz Sallum(Fundação de Apoio à Universidade Federal de São Paulo), Bernd Wissinger(University of California San Diego), José Luiz Pedroso(Associação Paulista de Medicina), Elsebet Østergaard(Copenhagen University Hospital), Fernando Kok(Universidade de São Paulo), Hanan E. Shamseldin(King Faisal Specialist Hospital & Research Centre), Henry Houlden(University College London), Fowzan S. Alkuraya(Alfaisal University), Abdullah Tamim(King Faisal Specialist Hospital & Research Centre), Robert W. Taylor(Wellcome Centre for Mitochondrial Research), Kailash P. Bhatia(National Hospital for Neurology and Neurosurgery), Karin Schäferhoff(University of Tübingen), Julian Raiman(Birmingham Children's Hospital), Tobias B. Haack(Technical University of Munich)
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