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Title:

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Document type:
Article; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
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:
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 families harboring novel NDUFA12 variants, with six of them presenting with Leigh syn...     »
Journal title abbreviation:
Hum Mutat
Year:
2021
Journal volume:
42
Journal issue:
6
Pages contribution:
699-710
Fulltext / DOI:
doi:10.1002/humu.24195
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/33715266
Print-ISSN:
1059-7794
TUM Institution:
Institut für Humangenetik
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