Article
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
Seminars in pediatric neurology - 1 Jun 2012
Panteghini Celeste, Zorzi Giovanna, Venco Paola, Dusi Sabrina, Reale Chiara, Brunetti Dario, Chiapparini Luisa, Zibordi Federica, Siegel Birgit, Siegel Brigitte, Garavaglia Barbara, Simonati Alessandro, Bertini Enrico, Nardocci Nardo, Tiranti Valeria
Abstract excerpt
Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia. We evaluated the presence of FA2H and C19orf12 mutations in a cohort of 46 Italian patients with early onset NBIA, which were negative for mutations in the PANK2 and PLA2G6 genes. Follow-up molecular genetic and...
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