Associated Papers
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z et al.
Biochimica Et Biophysica Acta, 2012
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H et al.
European Journal of Human Genetics : Ejhg, 2011
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010
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