title: Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.
authors: Dennis
authors: D
authors: Lal
authors: Kerstin
authors: K
authors: Becker
authors: Susanne
authors: S
authors: Motameny
authors: Janine
authors: J
authors: Altmüller
authors: Holger
authors: H
authors: Thiele
authors: Peter
authors: P
authors: Nürnberg
authors: Uwe
authors: U
authors: Ahting
authors: Boris
authors: B
authors: Rolinski
authors: Bernd A
authors: BA
authors: Neubauer
authors: Andreas
authors: A
authors: Hahn
mesh_terms: D002648:Child; D002675:Child, Preschool; D042967:Electron Transport Complex I; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009245:NADH Dehydrogenase / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D020955:Striatonigral Degeneration / Q000151:congenital* / Q000235:genetics
chemical_list: C112232:NDUFV1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I