Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

  • Nat Genet. 1999 Mar;21(3):260-1. doi: 10.1038/6772.
M Schuelke ,  J Smeitink ,  E Mariman ,  J Loeffen ,  B Plecko ,  F Trijbels ,  S Stöckler-Ipsiroglu ,  L van den Heuvel
PMID: 10080174 DOI: 10.1038/6772