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Novel NDUFA12 Variants Are Associated with Isolated Complex I Defect and Variable Clinical Manifestation

Alessandra Torraco,Alessia Nasca,Daniela Verrigni,Alessandra Pennisi,Maha S. Zaki,Giorgia Olivieri,Zahra Assouline,Diego Martinelli,Reza Maroofian,Teresa Rizza,Michela Di Nottia,Federica Invernizzi,Eleonora Lamantea,Daniela Longo,Henry Houlden,Holger Prokisch,Agnes Rotig,Carlo Dionisi-Vici,Enrico Bertini,Daniele Ghezzi,Rosalba Carrozzo,Daria Diodato

Human Mutation（2021）

Cited 14|Views36
Key words
Leigh syndrome,mitochondrial disease,NADH ubiquinone oxidoreductase,NDUFA12
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