- Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. Bénit, P., Steffann, J., Lebon, S., Chretien, D., Kadhom, N., de Lonlay, P., Goldenberg, A., Dumez, Y., Dommergues, M., Rustin, P., Munnich, A., Rötig, A. Hum. Genet. (2003)