Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21


rs397515440 in NUBPL gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.