Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.

Lal, Dennis; Becker, Kerstin; Motameny, Susanne; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Ahting, Uwe; Rolinski, Boris; Neubauer, Bernd A; Hahn, Andreas

Lal, Dennis; Becker, Kerstin; Motameny, Susanne; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Ahting, Uwe; Rolinski, Boris; Neubauer, Bernd A; Hahn, Andreas.

Neurogenetics ; 14(1): 85-7, 2013 Feb.

Article in En | MEDLINE | ID: mdl-23334465

Subject(s)

NADH Dehydrogenase/genetics; Striatonigral Degeneration/congenital; Child; Child, Preschool; Electron Transport Complex I; Female; Genetic Predisposition to Disease; Homozygote; Humans; Male; Mutation, Missense; Pedigree; Siblings; Striatonigral Degeneration/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Striatonigral Degeneration / NADH Dehydrogenase Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2013 Document type: Article

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