Article
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.
Parkinsonism & related disorders - 1 Jul 2015
Gagliardi Monica, Annesi Grazia, Lesca G, Broussolle E, Iannello Grazia, Vaiti Vincenzo, Gambardella Antonio, Quattrone Aldo
Abstract excerpt
A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has been described: mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of c19orf12 gene. We present phenotypic data and results of screening of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic mutations in C19orf12.
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