Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Human mutation - 1 Jun 2021
Torraco Alessandra, Nasca Alessia, Verrigni Daniela, Pennisi Alessandra, Zaki Maha S, Olivieri Giorgia, Assouline Zahra, Martinelli Diego, Maroofian Reza, Rizza Teresa, Di Nottia Michela, Invernizzi Federica, Lamantea Eleonora, Longo Daniela, Houlden Henry, Prokisch Holger, Rötig Agnès, Dionisi-Vici Carlo, Bertini Enrico, Ghezzi Daniele, Carrozzo Rosalba, Diodato Daria
Abstract excerpt
Isolated biochemical deficiency of mitochondrial complex I is the most frequent signature among mitochondrial diseases and is associated with a wide variety of clinical symptoms. Leigh syndrome represents the most frequent neuroradiological finding in patients with complex I defect and more than 80 monogenic causes have been involved in the disease. In this report, we describe seven patients from four unrelated...
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