Article
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Journal of medical genetics - 1 Feb 2012
Haack Tobias B, Madignier Florence, Herzer Martina, Lamantea Eleonora, Danhauser Katharina, Invernizzi Federica, Koch Johannes, Freitag Martin, Drost Rene, Hillier Ingo, Haberberger Birgit, Mayr Johannes A, Ahting Uwe, Tiranti Valeria, Rötig Agnes, Iuso Arcangela, Horvath Rita, Tesarova Marketa, Baric Ivo, Uziel Graziella, Rolinski Boris, Sperl Wolfgang, Meitinger Thomas, Zeviani Massimo, Freisinger Peter, Prokisch Holger
Abstract excerpt
BACKGROUND: Mitochondrial complex I deficiency is the most common cause of mitochondrial disease in childhood. Identification of the molecular basis is difficult given the clinical and genetic heterogeneity. Most patients lack a molecular definition in routine diagnostics. METHODS: A large-scale...
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