Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10882844 | Mitochondrion | 2012 | 13 Pages |
Abstract
⺠An overview of the function and assembly of complex I subunits is given. ⺠Current knowledge of the genetics of complex I deficiency is reviewed. ⺠Biochemical and genetic data of 34 complex I deficient patients are presented. ⺠In 41% of the patients in the cohort, a genetic defect was identified.
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Authors
Saskia J.G. Hoefs, Richard J. Rodenburg, Jan A.M. Smeitink, Lambert P. van den Heuvel,