NDUFS6 related Leigh syndrome: a case report and review of the literature
NDUFS6 related Leigh syndrome: a case report and review of the literature
About this item
Full title
Author / Creator
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype-phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6 encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only a few patients were reported w...
Alternative Titles
Full title
NDUFS6 related Leigh syndrome: a case report and review of the literature
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2204693791
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2204693791
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-019-0594-4
