Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

doi:10.1016/j.ajhg.2011.09.007

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Article

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

American journal of human genetics - 7 Oct 2011

Hartig Monika B, Iuso Arcangela, Haack Tobias, Kmiec Tomasz, Jurkiewicz Elzbieta, Heim Katharina, Roeber Sigrun, Tarabin Victoria, Dusi Sabrina, Krajewska-Walasek Malgorzata, Jozwiak Sergiusz, Hempel Maja, Winkelmann Juliane, Elstner Matthias, Oexle Konrad, Klopstock Thomas, Mueller-Felber Wolfgang, Gasser Thomas, Trenkwalder Claudia, Tiranti Valeria, Kretzschmar Hans, Schmitz Gerd, Strom Tim M, Meitinger Thomas, Prokisch Holger

Abstract excerpt

The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We used homozygosity mapping followed by candidate gene sequencing to identify a homozygous 11 bp...

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PMID: 21981780
DOI: 10.1016/j.ajhg.2011.09.007
PMCID: PMC3188837

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