• Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Glu211del (c.631_633delGAA) (211delE); ClinVar=VCV002430648; Zygosity=Heterozygous (PubMed=20382551; PubMed=22033105).
  
• Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Val228Ala (c.683T>C); ClinVar=VCV000429933; Zygosity=Heterozygous (PubMed=20382551; PubMed=22033105).
  

PubMed=20382551; DOI=10.1016/j.ymgme.2010.03.015
Hoefs S.J.G., Skjeldal O.H., Rodenburg R.J., Nedregaard B., van Kaauwen E.P.M., Spiekerkoetter U., von Kleist-Retzow J.-C., Smeitink J.A.M., Nijtmans L.G.J., van den Heuvel L.P.W.J.
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Mol. Genet. Metab. 100:251-256(2010)

PubMed=22033105; DOI=10.1016/j.bbadis.2011.10.009
Voets A.M., Huigsloot M., Lindsey P.J., Leenders A.M., Koopman W.J.H., Willems P.H.G.M., Rodenburg R.J., Smeitink J.A.M., Smeets H.J.M.
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.
Biochim. Biophys. Acta 1822:1161-1168(2012)