2. Academic Validation
  3. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

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
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