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

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Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L

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

Nat Genet. 1999 Mar;21(3):260-1.

PubMed ID
10080174 [ View in PubMed
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Abstract

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Polypeptides
NameUniProt ID
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrialP49821Details